{
    "disease_id": "DOID:0112131", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013139", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013139", 
            "name": "neutropenia, severe congenital, 2, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013139", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013139", 
            "name": "GFI1 autosomal dominant severe congenital neutropenia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013139", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013139", 
            "name": "neutropenia, severe congenital, 2, autosomal dominant; SCN2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013139", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013139", 
            "name": "SCN2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013139", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013139", 
            "name": "autosomal dominant severe congenital neutropenia caused by mutation in GFI1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112131", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112131", 
            "name": "SCN2"
        }, 
        {
            "url": "https://www.omim.org/entry/613107", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:613107", 
            "name": "Neutropenia, severe congenital 2, autosomal dominant"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0112131", 
        "description": "An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in GFI1 on chromosome 1p22.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0112131", 
        "name": "severe congenital neutropenia 2"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/613107", 
            "id": "613107", 
            "database": "MIM"
        }
    ]
}