{
    "disease_id": "DOID:0112128",
    "recommended_name": {
        "id": "DOID:0112128",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112128",
        "name": "X-linked severe congenital neutropenia",
        "description": "A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0112128",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112128",
            "name": "XLN",
            "description": ""
        },
        {
            "id": "DOID:0112128",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112128",
            "name": "SCNX",
            "description": ""
        },
        {
            "id": "MONDO:0010294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010294",
            "name": "X-linked severe congenital neutropenia",
            "description": "This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein."
        },
        {
            "id": "MONDO:0010294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010294",
            "name": "neutropenia, severe congenital, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010294",
            "name": "Xln",
            "description": ""
        },
        {
            "id": "MONDO:0010294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010294",
            "name": "severe congenital neutropenia X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010294",
            "name": "SCNX",
            "description": ""
        },
        {
            "id": "MONDO:0010294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010294",
            "name": "severe congenital neutropenia, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010294",
            "name": "neutropenia, severe congenital, X-linked; SCNX",
            "description": ""
        },
        {
            "id": "MIM:300299",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300299",
            "name": "Neutropenia, severe congenital, X-linked",
            "description": "Neutropenia, severe congenital, X-linked"
        }
    ]
}