{
    "disease_id": "DOID:0112133",
    "recommended_name": {
        "id": "DOID:0112133",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112133",
        "name": "severe congenital neutropenia 3",
        "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 the HAX1 gene on chromosome 1q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112133",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112133",
            "name": "Kostmann disease",
            "description": ""
        },
        {
            "id": "DOID:0112133",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112133",
            "name": "Kostmann syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112133",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112133",
            "name": "SCN3",
            "description": ""
        },
        {
            "id": "DOID:0112133",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112133",
            "name": "infantile agranulocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0012548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012548",
            "name": "Kostmann syndrome",
            "description": "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients."
        },
        {
            "id": "MONDO:0012548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012548",
            "name": "infantile agranulocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0012548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012548",
            "name": "neutropenia, severe congenital 3, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012548",
            "name": "severe congenital neutropenia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012548",
            "name": "SCN3",
            "description": ""
        },
        {
            "id": "MONDO:0012548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012548",
            "name": "agranulocytosis infantile",
            "description": ""
        },
        {
            "id": "MONDO:0012548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012548",
            "name": "neutropenia, severe congenital, 3, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012548",
            "name": "severe congenital neutropenia autosomal recessive 3",
            "description": ""
        },
        {
            "id": "MIM:610738",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610738",
            "name": "Neutropenia, severe congenital 3, autosomal recessive",
            "description": "Neutropenia, severe congenital 3, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112133"
    ],
    "unlinked_id_list": []
}