{
    "disease_id": "DOID:0111953", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014353", 
            "name": "PGM3-CDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014353", 
            "name": "immunodeficiency 23; IMD23"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014353", 
            "name": "Cid due to PGM3 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014353", 
            "name": "IMD23"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014353", 
            "name": "phosphoglucomutase 3 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014353", 
            "name": "combined immunodeficiency due to PGM3 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014353", 
            "name": "immunodeficiency with hyper IgE and cognitive impairment"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014353", 
            "name": "phosphoglucomutase deficiency type 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014353", 
            "name": "immunodeficiency-vasculitis-myoclonus syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014353", 
            "name": "PGM3-related congenital disorder of glycosylation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014353", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014353", 
            "name": "immunodeficiency type 23"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111953", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111953", 
            "name": "IMD23"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111953", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111953", 
            "name": "PGM3-CDG"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111953", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111953", 
            "name": "CID due to PGM3 deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111953", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111953", 
            "name": "PGM3-related congenital disorder of glycosylation"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111953", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111953", 
            "name": "combined immunodeficiency due to PGM3 deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111953", 
        "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 PGM3 on chromosome 6q14.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111953", 
        "name": "immunodeficiency 23"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111953#disease-associations", 
            "id": "0111953", 
            "database": "Alliance of Genome Resources"
        }
    ]
}