{
    "disease_id": "DOID:0050554",
    "recommended_name": {
        "id": "DOID:0050554",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050554",
        "name": "X-linked sideroblastic anemia with ataxia",
        "description": "A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050554",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050554",
            "name": "Anemia sideroblastic and spinocerebellar ataxia",
            "description": ""
        },
        {
            "id": "DOID:0050554",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050554",
            "name": "X-linked sideroblastic anaemia and ataxia",
            "description": ""
        },
        {
            "id": "DOID:0050554",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050554",
            "name": "X-linked sideroblastic anaemia with ataxia",
            "description": ""
        },
        {
            "id": "DOID:0050554",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050554",
            "name": "X-linked sideroblastic anemia and ataxia",
            "description": ""
        },
        {
            "id": "DOID:0050554",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050554",
            "name": "Anemia, sideroblastic, spinocerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "X-linked sideroblastic anemia with ataxia",
            "description": "A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia."
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "ASAT",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "Pagon-Bird-Detter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "X-linked sideroblastic anaemia with spinocerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "X-linked sideroblastic anemia with ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "X-linked sideroblastic anemia with spinocerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "XLSA-A",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "anaemia sideroblastic and spinocerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "anemia, sideroblastic, with ataxia, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "sideroblastic anaemia with spinocerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "sideroblastic anemia with spinocerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "Pagon Bird Detter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "X-linked sideroblastic Anaemia and ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "X-linked sideroblastic Anemia and ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "X-linked sideroblastic anaemia and spinocerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "Xlsa-A",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "anemia, Sex-linked hypochromic Siderobla",
            "description": ""
        },
        {
            "id": "MONDO:0010524",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "name": "anemia, sideroblastic, and spinocerebellar ataxia",
            "description": ""
        },
        {
            "id": "MIM:301310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301310",
            "name": "Spinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia",
            "description": "Spinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050554"
    ],
    "unlinked_id_list": []
}