{
    "disease_id": "DOID:0111988",
    "recommended_name": {
        "id": "DOID:0111988",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111988",
        "name": "immunodeficiency 12",
        "description": "A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32."
    },
    "synonyms": [
        {
            "id": "DOID:0111988",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111988",
            "name": "IMD12",
            "description": ""
        },
        {
            "id": "DOID:0111988",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111988",
            "name": "combined immunodeficiency due to MALT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014197",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014197",
            "name": "combined immunodeficiency due to MALT1 deficiency",
            "description": "Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections."
        },
        {
            "id": "MONDO:0014197",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014197",
            "name": "combined immunodeficiency due to MALT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014197",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014197",
            "name": "immunodeficiency type 12",
            "description": ""
        },
        {
            "id": "MONDO:0014197",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014197",
            "name": "IMD12",
            "description": ""
        },
        {
            "id": "MONDO:0014197",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014197",
            "name": "immunodeficiency 12",
            "description": ""
        },
        {
            "id": "MIM:615468",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615468",
            "name": "Immunodeficiency 12",
            "description": "Immunodeficiency 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111988"
    ],
    "unlinked_id_list": []
}