{
    "disease_id": "DOID:0112002",
    "recommended_name": {
        "id": "DOID:0112002",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112002",
        "name": "immunodeficiency 47",
        "description": "A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0112002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112002",
            "name": "immunodeficiency and hepatopathy with or without neurologic features",
            "description": ""
        },
        {
            "id": "DOID:0112002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112002",
            "name": "CDG IIs",
            "description": ""
        },
        {
            "id": "DOID:0112002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112002",
            "name": "CDG2S",
            "description": ""
        },
        {
            "id": "DOID:0112002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112002",
            "name": "CDGIIs",
            "description": ""
        },
        {
            "id": "DOID:0112002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112002",
            "name": "IMD47",
            "description": ""
        },
        {
            "id": "DOID:0112002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112002",
            "name": "congenital disorder of glycosylation type IIs",
            "description": ""
        },
        {
            "id": "MONDO:0010504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "name": "immunodeficiency 47",
            "description": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene."
        },
        {
            "id": "MONDO:0010504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "name": "ATP6AP1 primary immunodeficiency disease",
            "description": ""
        },
        {
            "id": "MONDO:0010504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "name": "IMD47",
            "description": ""
        },
        {
            "id": "MONDO:0010504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "name": "immunodeficiency 47",
            "description": ""
        },
        {
            "id": "MONDO:0010504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "name": "immunodeficiency 47, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "name": "immunodeficiency 47; IMD47",
            "description": ""
        },
        {
            "id": "MONDO:0010504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "name": "immunodeficiency type 47",
            "description": ""
        },
        {
            "id": "MONDO:0010504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "name": "primary immunodeficiency disease caused by mutation in ATP6AP1",
            "description": ""
        },
        {
            "id": "MIM:300972",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300972",
            "name": "Immunodeficiency 47",
            "description": "Immunodeficiency 47"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112002"
    ],
    "unlinked_id_list": []
}