{
    "disease_id": "DOID:0090013",
    "recommended_name": {
        "id": "DOID:0090013",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090013",
        "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive",
        "description": "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12."
    },
    "synonyms": [
        {
            "id": "DOID:0090013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090013",
            "name": "SCID due to complete RAG1-2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090013",
            "name": "Severe combined immunodeficiency due to complete RAG1-2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090013",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090013",
            "name": "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID",
            "description": ""
        },
        {
            "id": "MONDO:0011086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011086",
            "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive",
            "description": "A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia."
        },
        {
            "id": "MONDO:0011086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011086",
            "name": "SCID due to complete RAG1/2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011086",
            "name": "severe combined immunodeficiency, B cell-negative",
            "description": ""
        },
        {
            "id": "MONDO:0011086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011086",
            "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive",
            "description": ""
        },
        {
            "id": "MONDO:0011086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011086",
            "name": "SCID, AR, T-cell negative, B-cell negative, NK cell-positive",
            "description": ""
        },
        {
            "id": "MONDO:0011086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011086",
            "name": "severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive",
            "description": ""
        },
        {
            "id": "MIM:601457",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601457",
            "name": "Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive",
            "description": "Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090013"
    ],
    "unlinked_id_list": []
}