{
    "disease_id": "DOID:0112129",
    "recommended_name": {
        "id": "DOID:0112129",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112129",
        "name": "severe congenital neutropenia 7",
        "description": "A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112129",
            "name": "SCN7",
            "description": ""
        },
        {
            "id": "DOID:0112129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112129",
            "name": "autosomal recessive severe congenital neutropenia due to CSF3R deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014865",
            "name": "autosomal recessive severe congenital neutropenia due to CSF3R deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014865",
            "name": "neutropenia, Severe congenital, 7, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014865",
            "name": "SCN7",
            "description": ""
        },
        {
            "id": "MIM:617014",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617014",
            "name": "Neutropenia, severe congenital 7, autosomal recessive",
            "description": "Neutropenia, severe congenital 7, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112129"
    ],
    "unlinked_id_list": []
}