{
    "disease_id": "DOID:0111943",
    "recommended_name": {
        "id": "DOID:0111943",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111943",
        "name": "immunodeficiency 48",
        "description": "A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in ZAP70 on chromosome 2q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111943",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111943",
            "name": "IMD48",
            "description": ""
        },
        {
            "id": "DOID:0111943",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111943",
            "name": "combined immunodeficiency due to ZAP70 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111943",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111943",
            "name": "zeta-associated-protein 70 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010023",
            "name": "combined immunodeficiency due to ZAP70 deficiency",
            "description": "Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction."
        },
        {
            "id": "MONDO:0010023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010023",
            "name": "immunodeficiency 48",
            "description": ""
        },
        {
            "id": "MONDO:0010023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010023",
            "name": "selective T-cell defect",
            "description": ""
        },
        {
            "id": "MONDO:0010023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010023",
            "name": "STCD",
            "description": ""
        },
        {
            "id": "MONDO:0010023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010023",
            "name": "selective T-cell defect; STCD",
            "description": ""
        },
        {
            "id": "MONDO:0010023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010023",
            "name": "severe combined immunodeficiency due to ZAP70 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010023",
            "name": "zeta-associated-protein 70 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010023",
            "name": "IMD48",
            "description": ""
        },
        {
            "id": "MONDO:0010023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010023",
            "name": "immunodeficiency 48; IMD48",
            "description": ""
        },
        {
            "id": "MONDO:0010023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010023",
            "name": "ZAP-70 deficiency",
            "description": ""
        },
        {
            "id": "MIM:269840",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/269840",
            "name": "Immunodeficiency 48",
            "description": "Immunodeficiency 48"
        }
    ]
}