{
    "disease_id": "DOID:0111953",
    "recommended_name": {
        "id": "DOID:0111953",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111953",
        "name": "immunodeficiency 23",
        "description": "A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111953",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111953",
            "name": "CID due to PGM3 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111953",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111953",
            "name": "IMD23",
            "description": ""
        },
        {
            "id": "DOID:0111953",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111953",
            "name": "PGM3-CDG",
            "description": ""
        },
        {
            "id": "DOID:0111953",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111953",
            "name": "PGM3-related congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "DOID:0111953",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111953",
            "name": "combined immunodeficiency due to PGM3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency 23",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "CID due to PGM3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "IMD23",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "PGM3-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "PGM3-EXACT congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "combined immunodeficiency due to PGM3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "combined inflammatory and immunologic defect",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency 23",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency type 23",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency with hyper IgE and cognitive impairment",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency-vasculitis-myoclonus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "phosphoglucomutase 3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "phosphoglucomutase deficiency type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency 23",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "CID due to PGM3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "IMD23",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "PGM3-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "PGM3-EXACT congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "combined immunodeficiency due to PGM3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "combined inflammatory and immunologic defect",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency 23",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency type 23",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency with hyper IgE and cognitive impairment",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "immunodeficiency-vasculitis-myoclonus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "phosphoglucomutase 3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014353",
            "name": "phosphoglucomutase deficiency type 3",
            "description": ""
        },
        {
            "id": "MIM:615816",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615816",
            "name": "Immunodeficiency 23",
            "description": "Immunodeficiency 23"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111953"
    ],
    "unlinked_id_list": []
}