{
    "disease_id": "DOID:0112136",
    "recommended_name": {
        "id": "DOID:0112136",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112136",
        "name": "severe congenital neutropenia 4",
        "description": "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0112136",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112136",
            "name": "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112136",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112136",
            "name": "Dursun syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112136",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112136",
            "name": "SCN4",
            "description": ""
        },
        {
            "id": "DOID:0112136",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112136",
            "name": "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012930",
            "name": "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012930",
            "name": "SCN4",
            "description": ""
        },
        {
            "id": "MONDO:0012930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012930",
            "name": "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012930",
            "name": "neutropenia, severe congenital 4, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012930",
            "name": "severe congenital neutropenia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012930",
            "name": "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012930",
            "name": "neutropenia, severe congenital, 4, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:612541",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612541",
            "name": "Neutropenia, severe congenital 4, autosomal recessive",
            "description": "Neutropenia, severe congenital 4, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112136"
    ],
    "unlinked_id_list": []
}
