{
    "disease_id": "DOID:0112002", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010504", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010504", 
            "name": "primary immunodeficiency disease caused by mutation in ATP6AP1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010504", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010504", 
            "name": "immunodeficiency type 47"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010504", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010504", 
            "name": "immunodeficiency 47; IMD47"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010504", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010504", 
            "name": "IMD47"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010504", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010504", 
            "name": "immunodeficiency and hepatopathy with or without neurologic features"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010504", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010504", 
            "name": "ATP6AP1 primary immunodeficiency disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112002", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112002", 
            "name": "IMD47"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112002", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112002", 
            "name": "CDG IIs"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112002", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112002", 
            "name": "CDG2S"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112002", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112002", 
            "name": "CDGIIs"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112002", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112002", 
            "name": "immunodeficiency and hepatopathy with or without neurologic features"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112002", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112002", 
            "name": "congenital disorder of glycosylation type IIs"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0112002", 
        "description": "A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in ATP6AP1 on chromosome Xq28.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0112002", 
        "name": "immunodeficiency 47"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0112002#disease-associations", 
            "id": "0112002", 
            "database": "Alliance of Genome Resources"
        }
    ]
}