{
    "disease_id": "DOID:0112135", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:0112135", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112135", 
            "name": "SDSL"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112135", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112135", 
            "name": "SCN8"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112135", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112135", 
            "name": "autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112135", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112135", 
            "name": "Shwachman-Diamond syndrome-like"
        }, 
        {
            "url": "https://www.omim.org/entry/618752", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:618752", 
            "name": "Neutropenia, severe congenital 8, autosomal dominant"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0112135", 
        "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 SRP54 on chromosome 14q13.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0112135", 
        "name": "severe congenital neutropenia 8"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/618752", 
            "id": "618752", 
            "database": "MIM"
        }
    ]
}