{
    "disease_id": "DOID:0090008", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009454", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009454", 
            "name": "centromeric instability, immunodeficiency syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009454", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009454", 
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009454", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009454", 
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009454", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009454", 
            "name": "ICF1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009454", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009454", 
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 1; ICF1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009454", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009454", 
            "name": "DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009454", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009454", 
            "name": "immunodeficiency syndrome, variable"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009454", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009454", 
            "name": "immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009454", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009454", 
            "name": "ICF syndrome 1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090008", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090008", 
            "name": "ICF syndrome 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090008", 
        "description": "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090008", 
        "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090008#disease-associations", 
            "id": "0090008", 
            "database": "Alliance of Genome Resources"
        }
    ]
}