{
    "disease_id": "DOID:0090011", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014829", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014829", 
            "name": "ICF syndrome 4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014829", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014829", 
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014829", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014829", 
            "name": "immunodeficiency-centromeric instability-facial anomalies syndrome type 4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014829", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014829", 
            "name": "ICF4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014829", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014829", 
            "name": "immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4; ICF4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014829", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014829", 
            "name": "HELLS immunodeficiency-centromeric instability-facial anomalies syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090011", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090011", 
            "name": "ICF syndrome 4"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090011", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090011", 
        "name": "immunodeficiency-centromeric instability-facial anomalies syndrome 4"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090011#disease-associations", 
            "id": "0090011", 
            "database": "Alliance of Genome Resources"
        }
    ]
}