{
    "disease_id": "DOID:0110846",
    "recommended_name": {
        "id": "DOID:0110846",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110846",
        "name": "xeroderma pigmentosum group E",
        "description": "A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110846",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110846",
            "name": "XP group E",
            "description": ""
        },
        {
            "id": "DOID:0110846",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110846",
            "name": "XP5",
            "description": ""
        },
        {
            "id": "DOID:0110846",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110846",
            "name": "XPE",
            "description": ""
        },
        {
            "id": "DOID:0110846",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110846",
            "name": "xeroderma pigmentosum V",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "xeroderma pigmentosum group E",
            "description": "An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer."
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "XP, Group E",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "xeroderma pigmentosum 5",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "XP-E",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "xeroderma pigmentosum, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "XPE",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "XP5",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "XP group E",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "xeroderma pigmentosum, complementation group type E",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "xeroderma pigmentosum V",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "xeroderma pigmentosum group type E",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "XPe",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "xeroderma pigmentosum, complementation group E",
            "description": ""
        },
        {
            "id": "MIM:278740",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/278740",
            "name": "Xeroderma pigmentosum complementation group E",
            "description": "Xeroderma pigmentosum complementation group E"
        }
    ]
}