{
    "disease_id": "DOID:0111993",
    "recommended_name": {
        "id": "DOID:0111993",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111993",
        "name": "immunodeficiency 55",
        "description": "A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111993",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111993",
            "name": "IMD55",
            "description": ""
        },
        {
            "id": "DOID:0111993",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111993",
            "name": "combined immunodeficiency due to GINS1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044725",
            "name": "combined immunodeficiency due to GINS1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044725",
            "name": "CID due to GINS1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044725",
            "name": "combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia",
            "description": ""
        },
        {
            "id": "MONDO:0044725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044725",
            "name": "combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia",
            "description": ""
        },
        {
            "id": "MONDO:0044725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044725",
            "name": "IMD55",
            "description": ""
        },
        {
            "id": "MONDO:0044725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044725",
            "name": "immunodeficiency 55",
            "description": ""
        },
        {
            "id": "MIM:617827",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617827",
            "name": "Immunodeficiency 55",
            "description": "Immunodeficiency 55"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111993"
    ],
    "unlinked_id_list": []
}