{
    "disease_id": "DOID:0090009",
    "recommended_name": {
        "id": "DOID:0090009",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090009",
        "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 2",
        "description": "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21."
    },
    "synonyms": [
        {
            "id": "DOID:0090009",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090009",
            "name": "ICF syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013553",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 2",
            "description": "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene."
        },
        {
            "id": "MONDO:0013553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013553",
            "name": "ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013553",
            "name": "immunodeficiency-centromeric instability-Facial anomalies syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013553",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013553",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24",
            "description": ""
        },
        {
            "id": "MONDO:0013553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013553",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013553",
            "name": "ICF2",
            "description": ""
        },
        {
            "id": "MIM:614069",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614069",
            "name": "Immunodeficiency-centromeric instability-facial anomalies syndrome 2",
            "description": "Immunodeficiency-centromeric instability-facial anomalies syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090009"
    ],
    "unlinked_id_list": []
}
