{
    "disease_id": "DOID:0112158",
    "recommended_name": {
        "id": "DOID:0112158",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112158",
        "name": "De Sanctis-Cacchione syndrome",
        "description": "A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration."
    },
    "synonyms": [
        {
            "id": "DOID:0112158",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112158",
            "name": "xeroderma pigmentosum with neurologic manifestation",
            "description": ""
        },
        {
            "id": "MONDO:0010217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010217",
            "name": "de Sanctis-Cacchione syndrome",
            "description": "A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities."
        },
        {
            "id": "MONDO:0010217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010217",
            "name": "De Sanctis Cacchione Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010217",
            "name": "de Sanctis-Cacchione syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010217",
            "name": "xerodermic idiocy",
            "description": ""
        },
        {
            "id": "MIM:278800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/278800",
            "name": "De Sanctis-Cacchione syndrome",
            "description": "De Sanctis-Cacchione syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112158"
    ],
    "unlinked_id_list": []
}