{
    "disease_id": "DOID:0112134",
    "recommended_name": {
        "id": "DOID:0112134",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112134",
        "name": "severe congenital neutropenia 6",
        "description": "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in JAGN1 on chromosome 3p25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112134",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112134",
            "name": "SCN6",
            "description": ""
        },
        {
            "id": "DOID:0112134",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112134",
            "name": "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014456",
            "name": "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014456",
            "name": "neutropenia, severe congenital, 6, autosomal recessive; SCN6",
            "description": ""
        },
        {
            "id": "MONDO:0014456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014456",
            "name": "neutropenia, severe congenital, 6, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014456",
            "name": "SCN6",
            "description": ""
        },
        {
            "id": "MIM:616022",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616022",
            "name": "Neutropenia, severe congenital 6, autosomal recessive",
            "description": "Neutropenia, severe congenital 6, autosomal recessive"
        }
    ]
}