{
    "disease_id": "DOID:0060984",
    "recommended_name": {
        "id": "DOID:0060984",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060984",
        "name": "digenic dyskeratosis congenita",
        "description": "A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0031057",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031057",
            "name": "dyskeratosis congenita, digenic",
            "description": ""
        },
        {
            "id": "MONDO:0031057",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031057",
            "name": "DKCD",
            "description": ""
        },
        {
            "id": "MONDO:0031057",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031057",
            "name": "dyskeratosis congenita, digenic",
            "description": ""
        },
        {
            "id": "MIM:620040",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620040",
            "name": "Dyskeratosis congenita, digenic",
            "description": "Dyskeratosis congenita, digenic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060984"
    ],
    "unlinked_id_list": []
}