{
    "disease_id": "DOID:0051051",
    "recommended_name": {
        "id": "DOID:0051051",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051051",
        "name": "congenital disorder of glycosylation type IIw",
        "description": "A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0030437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030437",
            "name": "congenital disorder of glycosylation, type IIw",
            "description": ""
        },
        {
            "id": "MONDO:0030437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030437",
            "name": "CDG2W",
            "description": ""
        },
        {
            "id": "MIM:619525",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619525",
            "name": "Congenital disorder of glycosylation 2W",
            "description": "Congenital disorder of glycosylation 2W"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051051"
    ],
    "unlinked_id_list": []
}