{
    "disease_id": "DOID:0051048",
    "recommended_name": {
        "id": "DOID:0051048",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051048",
        "name": "congenital disorder of glycosylation type IIr",
        "description": "A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "MONDO:0026765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026765",
            "name": "congenital disorder of glycosylation, type IIr",
            "description": ""
        },
        {
            "id": "MONDO:0026765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026765",
            "name": "congenital disorder of glycosylation, type IIr, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0026765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026765",
            "name": "CDG2R",
            "description": ""
        },
        {
            "id": "MIM:301045",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301045",
            "name": "Congenital disorder of glycosylation 2R",
            "description": "Congenital disorder of glycosylation 2R"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051048"
    ],
    "unlinked_id_list": []
}