{
    "disease_id": "DOID:0112132", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014118", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014118", 
            "name": "congenital neutropenia-myelofibrosis-nephromegaly syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014118", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014118", 
            "name": "neutropenia, severe congenital, 5, autosomal recessive; SCN5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014118", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014118", 
            "name": "neutropenia, severe congenital, 5, autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014118", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014118", 
            "name": "SCN5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014118", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014118", 
            "name": "vps45 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014118", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014118", 
            "name": "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112132", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112132", 
            "name": "SCN5"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112132", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112132", 
            "name": "VPS45 deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112132", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112132", 
            "name": "congenital neutropenia-myelofibrosis-nephromegaly syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112132", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112132", 
            "name": "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome"
        }, 
        {
            "url": "https://www.omim.org/entry/615285", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:615285", 
            "name": "Neutropenia, severe congenital 5, autosomal recessive"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0112132", 
        "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 VPS45 on chromosome 1q21.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0112132", 
        "name": "severe congenital neutropenia 5"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/615285", 
            "id": "615285", 
            "database": "MIM"
        }
    ]
}