{
    "disease_id": "DOID:0112135",
    "recommended_name": {
        "id": "DOID:0112135",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112135",
        "name": "severe congenital neutropenia 8",
        "description": "An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112135",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112135",
            "name": "autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities",
            "description": ""
        },
        {
            "id": "DOID:0112135",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112135",
            "name": "SCN8",
            "description": ""
        },
        {
            "id": "DOID:0112135",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112135",
            "name": "SDSL",
            "description": ""
        },
        {
            "id": "DOID:0112135",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112135",
            "name": "Shwachman-Diamond syndrome-like",
            "description": ""
        },
        {
            "id": "MONDO:0032899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032899",
            "name": "neutropenia, severe congenital, 8, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0032899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032899",
            "name": "SCN8",
            "description": ""
        },
        {
            "id": "MIM:618752",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618752",
            "name": "Neutropenia, severe congenital 8, autosomal dominant",
            "description": "Neutropenia, severe congenital 8, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112135"
    ],
    "unlinked_id_list": []
}