{
    "disease_id": "DOID:0112129", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014865", 
            "name": "autosomal recessive severe congenital neutropenia due to CSF3R deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014865", 
            "name": "neutropenia, Severe congenital, 7, autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014865", 
            "name": "SCN7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014865", 
            "name": "neutropenia, severe congenital, 7, autosomal recessive; SCN7"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112129", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112129", 
            "name": "SCN7"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112129", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112129", 
            "name": "autosomal recessive severe congenital neutropenia due to CSF3R deficiency"
        }, 
        {
            "url": "https://www.omim.org/entry/617014", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:617014", 
            "name": "Neutropenia, severe congenital 7, autosomal recessive"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0112129", 
        "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 CSF3R on chromosome 1p34.3.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0112129", 
        "name": "severe congenital neutropenia 7"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/617014", 
            "id": "617014", 
            "database": "MIM"
        }
    ]
}