{
    "disease_id": "DOID:0080209",
    "recommended_name": {
        "id": "DOID:0080209",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080209",
        "name": "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0080209",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080209",
            "name": "SIFD",
            "description": ""
        },
        {
            "id": "MONDO:0014487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014487",
            "name": "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome",
            "description": "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful."
        },
        {
            "id": "MONDO:0014487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014487",
            "name": "SIFD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014487",
            "name": "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0014487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014487",
            "name": "SIFD",
            "description": ""
        },
        {
            "id": "MIM:616084",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616084",
            "name": "Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay",
            "description": "Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay"
        }
    ]
}