{
    "disease_id": "DOID:0112133", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012548", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012548", 
            "name": "Kostmann syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012548", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012548", 
            "name": "severe congenital neutropenia autosomal recessive 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012548", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012548", 
            "name": "severe congenital neutropenia type 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012548", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012548", 
            "name": "neutropenia, severe congenital, 3, autosomal recessive; SCN3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012548", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012548", 
            "name": "Kostmann disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012548", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012548", 
            "name": "neutropenia, severe congenital, 3, autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012548", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012548", 
            "name": "infantile agranulocytosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012548", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012548", 
            "name": "agranulocytosis infantile"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012548", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012548", 
            "name": "SCN3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012548", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012548", 
            "name": "agranulocytosis, infantile"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112133", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112133", 
            "name": "Kostmann syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112133", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112133", 
            "name": "Kostmann disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112133", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112133", 
            "name": "SCN3"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112133", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112133", 
            "name": "infantile agranulocytosis"
        }, 
        {
            "url": "https://www.omim.org/entry/610738", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:610738", 
            "name": "Neutropenia, severe congenital 3, autosomal recessive"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0112133", 
        "description": "A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in HAX1 on chromosome 1q21.3.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0112133", 
        "name": "severe congenital neutropenia 3"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/610738", 
            "id": "610738", 
            "database": "MIM"
        }
    ]
}