{
    "disease_id": "DOID:0110847",
    "recommended_name": {
        "id": "DOID:0110847",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110847",
        "name": "xeroderma pigmentosum variant type",
        "description": "A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110847",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110847",
            "name": "XPV",
            "description": ""
        },
        {
            "id": "DOID:0110847",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110847",
            "name": "photosensitivity with defective DNA synthesis",
            "description": ""
        },
        {
            "id": "DOID:0110847",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110847",
            "name": "xeroderma pigmentosum with normal DNA repair rates",
            "description": ""
        },
        {
            "id": "MONDO:0010214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010214",
            "name": "xeroderma pigmentosum variant type",
            "description": "Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer."
        },
        {
            "id": "MONDO:0010214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010214",
            "name": "xeroderma pigmentosum with normal DNA repair rates",
            "description": ""
        },
        {
            "id": "MONDO:0010214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010214",
            "name": "xeroderma pigmentosum variant",
            "description": ""
        },
        {
            "id": "MONDO:0010214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010214",
            "name": "xeroderma pigmentosum, variant type",
            "description": ""
        },
        {
            "id": "MONDO:0010214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010214",
            "name": "xeroderma pigmentosum with Normal DNA repair rates",
            "description": ""
        },
        {
            "id": "MONDO:0010214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010214",
            "name": "photosensitivity with defective DNA synthesis",
            "description": ""
        },
        {
            "id": "MONDO:0010214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010214",
            "name": "xeroderma pigmentosum, variant type; XPV",
            "description": ""
        },
        {
            "id": "MONDO:0010214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010214",
            "name": "XPV",
            "description": ""
        },
        {
            "id": "MIM:278750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/278750",
            "name": "Xeroderma pigmentosum variant type",
            "description": "Xeroderma pigmentosum variant type"
        }
    ]
}