{
    "disease_id": "DOID:0070026",
    "recommended_name": {
        "id": "DOID:0070026",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070026",
        "name": "Revesz syndrome",
        "description": "A dyskeratosis congenita that has_material_basis_in a mutation of TINF2 on chromosome 14q12."
    },
    "synonyms": [
        {
            "id": "DOID:0070026",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070026",
            "name": "DKCA5",
            "description": ""
        },
        {
            "id": "DOID:0070026",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070026",
            "name": "Dyskeratosis Congenita, Autosomal Dominant 5",
            "description": ""
        },
        {
            "id": "DOID:0070026",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070026",
            "name": "exudative retinopathy with bone marrow failure",
            "description": ""
        },
        {
            "id": "MONDO:0009990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009990",
            "name": "Revesz syndrome",
            "description": "Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications."
        },
        {
            "id": "MONDO:0009990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009990",
            "name": "DKCA5",
            "description": ""
        },
        {
            "id": "MONDO:0009990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009990",
            "name": "Revesz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009990",
            "name": "Revesz-DeBuse syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009990",
            "name": "dyskeratosis congenita with bilateral exudative retinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009990",
            "name": "dyskeratosis congenita, autosomal dominant 5",
            "description": ""
        },
        {
            "id": "MONDO:0009990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009990",
            "name": "exudative retinopathy with bone marrow failure",
            "description": ""
        },
        {
            "id": "MONDO:0009990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009990",
            "name": "retinopathy-anemia-central nervous system anomalies syndrome",
            "description": ""
        },
        {
            "id": "MIM:268130",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/268130",
            "name": "Dyskeratosis congenita, autosomal dominant, 5",
            "description": "Dyskeratosis congenita, autosomal dominant, 5"
        }
    ]
}