{
    "disease_id": "DOID:0060020",
    "recommended_name": {
        "id": "DOID:0060020",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060020",
        "name": "reticular dysgenesis",
        "description": "A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions."
    },
    "synonyms": [
        {
            "id": "DOID:0060020",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060020",
            "name": "De Vaal disease",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "reticular dysgenesis",
            "description": "Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated."
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "DeVaal disease",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "RD",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "generalized hematopoietic hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "aleukocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "reticular Dysgenesia",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "hematopoietic hypoplasia, generalized",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "SCID with leukopenia",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "severe combined immunodeficiency with leukopenia",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "congenital aleukocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "De Vaal disease",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "AK2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "reticular dysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0009973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009973",
            "name": "congenital Aleukia",
            "description": ""
        },
        {
            "id": "MIM:267500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/267500",
            "name": "Reticular dysgenesis",
            "description": "Reticular dysgenesis"
        }
    ]
}