{
    "disease_id": "DOID:0061072",
    "recommended_name": {
        "id": "DOID:0061072",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061072",
        "name": "immunodeficiency 102",
        "description": "A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26."
    },
    "synonyms": [
        {
            "id": "MONDO:0024781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024781",
            "name": "immunodeficiency 102",
            "description": "An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation."
        },
        {
            "id": "MONDO:0024781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024781",
            "name": "IMD102",
            "description": ""
        },
        {
            "id": "MONDO:0024781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024781",
            "name": "SASH3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0024781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024781",
            "name": "X-linked CID due to SASH3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0024781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024781",
            "name": "X-linked combined immunodeficiency due to SASH3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0024781",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024781",
            "name": "immunodeficiency 102",
            "description": ""
        },
        {
            "id": "MIM:301082",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301082",
            "name": "Immunodeficiency 102",
            "description": "Immunodeficiency 102"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061072"
    ],
    "unlinked_id_list": []
}