{
    "disease_id": "DOID:0111993", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0044725", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0044725", 
            "name": "combined immunodeficiency due to GINS1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0044725", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0044725", 
            "name": "IMD55"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0044725", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0044725", 
            "name": "combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0044725", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0044725", 
            "name": "combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0044725", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0044725", 
            "name": "Cid due to GINS1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0044725", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0044725", 
            "name": "immunodeficiency 55; IMD55"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111993", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111993", 
            "name": "IMD55"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111993", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111993", 
            "name": "combined immunodeficiency due to GINS1 deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111993", 
        "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 GINS1 on chromosome 20p11.21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111993", 
        "name": "immunodeficiency 55"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/617827", 
            "id": "617827", 
            "database": "MIM"
        }
    ]
}