{
    "disease_id": "DOID:0070747",
    "recommended_name": {
        "id": "DOID:0070747",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070747",
        "name": "immunodeficiency, developmental delay, and hypohomocysteinemia",
        "description": "An autosomal dominant intellectual developmental disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia that has_material_basis_in heterozygous mutation in the NFE2L2 gene on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0070747",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070747",
            "name": "IMDDHH",
            "description": ""
        },
        {
            "id": "MONDO:0060591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060591",
            "name": "immunodeficiency, developmental delay, and hypohomocysteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0060591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060591",
            "name": "immunodeficiency, developmental delay, and hypohomocysteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0060591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060591",
            "name": "IMDDHH",
            "description": ""
        },
        {
            "id": "MIM:617744",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617744",
            "name": "Immunodeficiency, developmental delay, and hypohomocysteinemia",
            "description": "Immunodeficiency, developmental delay, and hypohomocysteinemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070747"
    ],
    "unlinked_id_list": []
}