{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0060008",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060008",
            "categories": []
        },
        {
            "id": "MONDO:0010938",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010938",
            "categories": []
        },
        {
            "id": "MIM:600802",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600802",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P52333-1",
            "uniprot_ac": "P52333",
            "uniprot_id": "JAK3_HUMAN",
            "refseq_ac": "NP_000206",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase JAK3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "JAK-3",
                    "type": "synonym"
                },
                {
                    "name": "Janus kinase 3 (a protein tyrosine kinase, leukocyte)",
                    "type": "synonym"
                },
                {
                    "name": "Janus kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "L-JAK",
                    "type": "synonym"
                },
                {
                    "name": "Leukocyte janus kinase",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte Janus kinase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase JAK3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "JAK3",
                    "type": "recommended"
                },
                {
                    "name": "JAK-3",
                    "type": "synonym"
                },
                {
                    "name": "JAK3_HUMAN",
                    "type": "synonym"
                },
                {
                    "name": "JAK3",
                    "type": "synonym"
                },
                {
                    "name": "JAKL",
                    "type": "synonym"
                },
                {
                    "name": "L-JAK",
                    "type": "synonym"
                },
                {
                    "name": "LJAK",
                    "type": "synonym"
                }
            ],
            "record_id": "P52333-1",
            "evidence": [
                {
                    "id": "600802",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600802"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060008"
}