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