{
    "disease_id": "DOID:0112132",
    "recommended_name": {
        "id": "DOID:0112132",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112132",
        "name": "severe congenital neutropenia 5",
        "description": "A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112132",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112132",
            "name": "SCN5",
            "description": ""
        },
        {
            "id": "DOID:0112132",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112132",
            "name": "VPS45 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112132",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112132",
            "name": "congenital neutropenia-myelofibrosis-nephromegaly syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112132",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112132",
            "name": "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014118",
            "name": "congenital neutropenia-myelofibrosis-nephromegaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014118",
            "name": "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014118",
            "name": "vps45 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014118",
            "name": "SCN5",
            "description": ""
        },
        {
            "id": "MONDO:0014118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014118",
            "name": "neutropenia, severe congenital, 5, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:615285",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615285",
            "name": "Neutropenia, severe congenital 5, autosomal recessive",
            "description": "Neutropenia, severe congenital 5, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112132"
    ],
    "unlinked_id_list": []
}