{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0050554",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050554",
            "categories": []
        },
        {
            "id": "MONDO:0010524",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010524",
            "categories": []
        },
        {
            "id": "MIM:301310",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301310",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F6F7-1",
            "uniprot_ac": "E7F6F7",
            "uniprot_id": "ABCB7_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur clusters transporter ABCB7, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 7, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abcb7",
                    "type": "recommended"
                },
                {
                    "name": "fc20c02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc20c02",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F6F7-1",
            "evidence": [
                {
                    "id": "0050554",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050554"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61102-1",
            "uniprot_ac": "Q61102",
            "uniprot_id": "ABCB7_MOUSE",
            "refseq_ac": "NP_033722",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur clusters transporter ABCB7, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ABC transporter 7 protein",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 7, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family B (MDR/TAP), member 7",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur clusters transporter ABCB7, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abcb7",
                    "type": "recommended"
                },
                {
                    "name": "Abc7",
                    "type": "synonym"
                },
                {
                    "name": "Abcb7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61102-1",
            "evidence": [
                {
                    "id": "0050554",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050554"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75027-1",
            "uniprot_ac": "O75027",
            "uniprot_id": "ABCB7_HUMAN",
            "refseq_ac": "NP_001258625",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur clusters transporter ABCB7, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ABC transporter 7 protein",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 7, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family B (MDR/TAP), member 7",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur clusters transporter ABCB7, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur clusters transporter ABCB7, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABCB7",
                    "type": "recommended"
                },
                {
                    "name": "ABC7",
                    "type": "synonym"
                },
                {
                    "name": "ABCB7",
                    "type": "synonym"
                },
                {
                    "name": "ASAT",
                    "type": "synonym"
                },
                {
                    "name": "Atm1p",
                    "type": "synonym"
                },
                {
                    "name": "EST140535",
                    "type": "synonym"
                }
            ],
            "record_id": "O75027-1",
            "evidence": [
                {
                    "id": "301310",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301310"
                },
                {
                    "id": "0050554",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050554"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40416-1",
            "uniprot_ac": "P40416",
            "uniprot_id": "ATM1_YEAST",
            "refseq_ac": "NP_014030",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur clusters transporter ATM1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette Fe/S cluster precursor transporter ATM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATM1",
                    "type": "recommended"
                },
                {
                    "name": "ATM1",
                    "type": "synonym"
                },
                {
                    "name": "MDY",
                    "type": "synonym"
                },
                {
                    "name": "YM9952.03C",
                    "type": "synonym"
                }
            ],
            "record_id": "P40416-1",
            "evidence": [
                {
                    "id": "0050554",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050554"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q704E8-1",
            "uniprot_ac": "Q704E8",
            "uniprot_id": "ABCB7_RAT",
            "refseq_ac": "NP_997683",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur clusters transporter ABCB7, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ABC transporter 7 protein",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 7, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family B (MDR/TAP), member 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family B, member 7, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, subfamily B (MDR/TAP), member 7",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur clusters transporter ABCB7, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abcb7",
                    "type": "recommended"
                },
                {
                    "name": "Abcb7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q704E8-1",
            "evidence": [
                {
                    "id": "0050554",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050554"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0C5-1",
            "uniprot_ac": "Q9W0C5",
            "uniprot_id": "Q9W0C5_DROME",
            "refseq_ac": "NP_728642",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur clusters transporter ABCB7, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ABCB7-PA",
                    "type": "synonym"
                },
                {
                    "name": "ATP binding cassette subfamily B member 7, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family B member 7, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "CG7955-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABCB7",
                    "type": "recommended"
                },
                {
                    "name": "ABCB7",
                    "type": "synonym"
                },
                {
                    "name": "CG7955",
                    "type": "synonym"
                },
                {
                    "name": "DmCG7955",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7955",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7955",
                    "type": "synonym"
                },
                {
                    "name": "dABCB7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0C5-1",
            "evidence": [
                {
                    "id": "0050554",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050554"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050554"
}