{
    "disease_id": "DOID:0050590", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0042490", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0042490", 
            "name": "neutropenia, severe congenital, 1, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0042490", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0042490", 
            "name": "neutropenia, severe congenital, 1, autosomal dominant; SCN1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0042490", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0042490", 
            "name": "SCN1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050590", 
        "description": "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050590", 
        "name": "severe congenital neutropenia"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0050590#disease-associations", 
            "id": "0050590", 
            "database": "Alliance of Genome Resources"
        }
    ]
}