{
    "disease_id": "DOID:0090011",
    "recommended_name": {
        "id": "DOID:0090011",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090011",
        "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 4",
        "description": "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23."
    },
    "synonyms": [
        {
            "id": "DOID:0090011",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090011",
            "name": "ICF syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0014829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014829",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 4",
            "description": "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene."
        },
        {
            "id": "MONDO:0014829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014829",
            "name": "HELLS immunodeficiency-centromeric instability-facial anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014829",
            "name": "immunodeficiency-centromeric instability-Facial anomalies syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0014829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014829",
            "name": "immunodeficiency-centromeric instability-Facial anomalies syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014829",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS",
            "description": ""
        },
        {
            "id": "MONDO:0014829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014829",
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014829",
            "name": "ICF4",
            "description": ""
        },
        {
            "id": "MIM:616911",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616911",
            "name": "Immunodeficiency-centromeric instability-facial anomalies syndrome 4",
            "description": "Immunodeficiency-centromeric instability-facial anomalies syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090011"
    ],
    "unlinked_id_list": []
}