{
    "disease_id": "DOID:0111934",
    "recommended_name": {
        "id": "DOID:0111934",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111934",
        "name": "immunodeficiency 38",
        "description": "A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in ISG15 on chromosome 1p36.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111934",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111934",
            "name": "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111934",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111934",
            "name": "IMD38",
            "description": ""
        },
        {
            "id": "DOID:0111934",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111934",
            "name": "immunodeficiency 38 with basal ganglia calcification",
            "description": ""
        },
        {
            "id": "DOID:0111934",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111934",
            "name": "autosomal recessive ISG15 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111934",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111934",
            "name": "immunodeficiency 38, mycobacteriosis, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014502",
            "name": "mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency",
            "description": "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-GuC)rin (BCG) infections."
        },
        {
            "id": "MONDO:0014502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014502",
            "name": "immunodeficiency 38, Mycobacteriosis, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014502",
            "name": "immunodeficiency 38 with basal ganglia calcification",
            "description": ""
        },
        {
            "id": "MONDO:0014502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014502",
            "name": "ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014502",
            "name": "MSMD due to complete ISG15 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014502",
            "name": "ISG15 deficiency, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014502",
            "name": "immunodeficiency 38 with basal ganglia calcification; IMD38",
            "description": ""
        },
        {
            "id": "MONDO:0014502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014502",
            "name": "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15",
            "description": ""
        },
        {
            "id": "MONDO:0014502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014502",
            "name": "IMD38",
            "description": ""
        },
        {
            "id": "MIM:616126",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616126",
            "name": "Immunodeficiency 38, with basal ganglia calcification",
            "description": "Immunodeficiency 38, with basal ganglia calcification"
        }
    ]
}