{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "Nonsyndromal microcephaly, autosomal recessive, with Normal intelligence"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "Seemanova syndrome 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "immunodeficiency-microcephaly-chromosomal instability syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "Nijmegen breakage syndrome; NBs"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "Seemanova syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "AT V1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "microcephaly immunodeficiency lymphoreticuloma"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "Nonsyndromal microcephaly autosomal recessive with normal intelligence"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "ataxia-telangiectasia variant V2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "ataxia-telangiectasia, variant 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "immunodeficiency, microcephaly, and chromosomal instability"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "ataxia-telangiectasia variant V1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "microcephaly, normal intelligence and immunodeficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "microcephaly-immunodeficiency-lymphoreticuloma syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "NBs"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "Berlin breakage syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "Seemanova syndrome type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009623", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009623", 
            "name": "microcephaly with Normal intelligence, immunodeficiency, and lymphoreticular malignancies"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:7400", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:7400", 
            "name": "microcephaly-immunodeficiency-lymphoreticuloma syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:7400", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:7400", 
            "name": "Berlin breakage syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:7400", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:7400", 
            "name": "immunodeficiency-microcephaly-chromosomal instability syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:7400", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:7400", 
            "name": "NBS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:7400", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:7400", 
            "name": "Seemanova syndrome II"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:7400", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:7400", 
            "name": "Seemanova syndrome type 2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:7400", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:7400", 
            "name": "ataxia-telangiectasia variant"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:7400", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:7400", 
            "name": "Microcephaly, normal intelligence and immunodeficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:7400", 
        "description": "A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3.", 
        "resource": "Disease Ontology", 
        "id": "DOID:7400", 
        "name": "Nijmegen breakage syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/251260", 
            "id": "251260", 
            "database": "MIM"
        }
    ]
}