{
    "disease_id": "DOID:0060009",
    "recommended_name": {
        "id": "DOID:0060009",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060009",
        "name": "MHC class I deficiency",
        "description": "A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy."
    },
    "synonyms": [
        {
            "id": "DOID:0060009",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060009",
            "name": "BLS, TYPE I",
            "description": ""
        },
        {
            "id": "DOID:0060009",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060009",
            "name": "BLSI",
            "description": ""
        },
        {
            "id": "DOID:0060009",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060009",
            "name": "HLA CLASS I DEFICIENCY",
            "description": ""
        },
        {
            "id": "DOID:0060009",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060009",
            "name": "bare lymphocyte syndrome type I",
            "description": ""
        },
        {
            "id": "MONDO:0011476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011476",
            "name": "MHC class I deficiency",
            "description": "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections."
        },
        {
            "id": "MONDO:0011476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011476",
            "name": "bare lymphocyte syndrome type I",
            "description": ""
        },
        {
            "id": "MONDO:0011476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011476",
            "name": "immunodeficiency by defective expression of HLA class 1",
            "description": ""
        },
        {
            "id": "MONDO:0011476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011476",
            "name": "Bare lymphocyte syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011476",
            "name": "HLA Class 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011476",
            "name": "HLA CLASS I deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011476",
            "name": "Bare lymphocyte syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011476",
            "name": "BARE lymphocyte syndrome, type I",
            "description": ""
        },
        {
            "id": "MONDO:0011476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011476",
            "name": "BLS type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011476",
            "name": "immunodeficiency by defective expression of HLA class type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011476",
            "name": "Bls, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011476",
            "name": "BLSI",
            "description": ""
        },
        {
            "id": "MONDO:0011476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011476",
            "name": "BLS, type I",
            "description": ""
        },
        {
            "id": "MIM:604571",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604571",
            "name": "Bare lymphocyte syndrome 1",
            "description": "Bare lymphocyte syndrome 1"
        }
    ]
}