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