{
    "disease_id": "DOID:0080209", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014487", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014487", 
            "name": "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014487", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014487", 
            "name": "SIFD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014487", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014487", 
            "name": "SIFD syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014487", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014487", 
            "name": "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; SIFD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080209", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080209", 
            "name": "SIFD"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080209", 
        "description": "A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080209", 
        "name": "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080209#disease-associations", 
            "id": "0080209", 
            "database": "Alliance of Genome Resources"
        }
    ]
}