{
    "disease_id": "DOID:0060008",
    "recommended_name": {
        "id": "DOID:0060008",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060008",
        "name": "janus kinase-3 deficiency",
        "description": "A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells."
    },
    "synonyms": [
        {
            "id": "MONDO:0010938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010938",
            "name": "T-B+ severe combined immunodeficiency due to JAK3 deficiency",
            "description": "Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive."
        },
        {
            "id": "MONDO:0010938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010938",
            "name": "SCID, autosomal recessive, T-negative/B-positive type",
            "description": ""
        },
        {
            "id": "MONDO:0010938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010938",
            "name": "T-B+ SCID due to JAK3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010938",
            "name": "T-B+ severe combined immunodeficiency due to JAK3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010938",
            "name": "T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency",
            "description": ""
        },
        {
            "id": "MIM:600802",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600802",
            "name": "Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative",
            "description": "Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060008"
    ],
    "unlinked_id_list": []
}