{
    "disease_id": "DOID:0111218",
    "recommended_name": {
        "id": "DOID:0111218",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111218",
        "name": "Friedreich ataxia 1",
        "description": "A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111218",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111218",
            "name": "FA1",
            "description": ""
        },
        {
            "id": "DOID:0111218",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111218",
            "name": "FRDA1",
            "description": ""
        },
        {
            "id": "MONDO:0100340",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100340",
            "name": "Friedreich ataxia 1",
            "description": "Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene."
        },
        {
            "id": "MONDO:0100340",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100340",
            "name": "Friedreich ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0100340",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100340",
            "name": "FRDA1",
            "description": ""
        },
        {
            "id": "MONDO:0100340",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100340",
            "name": "Friedreich ataxia 1",
            "description": ""
        },
        {
            "id": "MONDO:0100340",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100340",
            "name": "Friedreich ataxia type 1",
            "description": ""
        },
        {
            "id": "MIM:229300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/229300",
            "name": "Friedreich ataxia",
            "description": "Friedreich ataxia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111218"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111218",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111218",
            "categories": []
        },
        {
            "id": "MONDO:0100340",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100340",
            "categories": []
        },
        {
            "id": "MIM:229300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/229300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NC77-1",
            "uniprot_ac": "A0A8M1NC77",
            "uniprot_id": "A0A8M1NC77_DANRE",
            "refseq_ac": "NP_001076485",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frataxin, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.16.3.1",
                    "type": "synonym"
                },
                {
                    "name": "DKEYP-118A9.1",
                    "type": "synonym"
                },
                {
                    "name": "frataxin, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fxn",
                    "type": "recommended"
                },
                {
                    "name": "fxn",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158218",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NC77-1",
            "evidence": [
                {
                    "id": "0111218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35943-1",
            "uniprot_ac": "O35943",
            "uniprot_id": "FRDA_MOUSE",
            "refseq_ac": "NP_032070",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frataxin, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.16.3.1",
                    "type": "synonym"
                },
                {
                    "name": "Friedreich ataxia",
                    "type": "synonym"
                },
                {
                    "name": "Fxn",
                    "type": "synonym"
                },
                {
                    "name": "frataxin, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "frataxin, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fxn",
                    "type": "recommended"
                },
                {
                    "name": "FARR",
                    "type": "synonym"
                },
                {
                    "name": "FA",
                    "type": "synonym"
                },
                {
                    "name": "Frda",
                    "type": "synonym"
                },
                {
                    "name": "Fxn",
                    "type": "synonym"
                },
                {
                    "name": "X25",
                    "type": "synonym"
                }
            ],
            "record_id": "O35943-1",
            "evidence": [
                {
                    "id": "0111218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16595-1",
            "uniprot_ac": "Q16595",
            "uniprot_id": "FRDA_HUMAN",
            "refseq_ac": "NP_000135",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frataxin, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.16.3.1",
                    "type": "synonym"
                },
                {
                    "name": "Frataxin(81-210)",
                    "type": "synonym"
                },
                {
                    "name": "Friedreich ataxia protein",
                    "type": "synonym"
                },
                {
                    "name": "Fxn",
                    "type": "synonym"
                },
                {
                    "name": "d-FXN",
                    "type": "synonym"
                },
                {
                    "name": "frataxin, mitochondrial isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "frataxin, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "m56-FXN",
                    "type": "synonym"
                },
                {
                    "name": "m78-FXN",
                    "type": "synonym"
                },
                {
                    "name": "m81-FXN",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FXN",
                    "type": "recommended"
                },
                {
                    "name": "CyaY",
                    "type": "synonym"
                },
                {
                    "name": "FARR",
                    "type": "synonym"
                },
                {
                    "name": "FA",
                    "type": "synonym"
                },
                {
                    "name": "FRDA",
                    "type": "synonym"
                },
                {
                    "name": "FXN",
                    "type": "synonym"
                },
                {
                    "name": "X25",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16595-1",
            "evidence": [
                {
                    "id": "229300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/229300"
                },
                {
                    "id": "0111218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07540-1",
            "uniprot_ac": "Q07540",
            "uniprot_id": "FRDA_YEAST",
            "refseq_ac": "NP_010163",
            "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": "Frataxin homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.16.3.1",
                    "type": "synonym"
                },
                {
                    "name": "ferroxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YFH1",
                    "type": "recommended"
                },
                {
                    "name": "YFH1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07540-1",
            "evidence": [
                {
                    "id": "0111218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZYW7-1",
            "uniprot_ac": "D3ZYW7",
            "uniprot_id": "FRDA_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frataxin, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.16.3.1",
                    "type": "synonym"
                },
                {
                    "name": "Fxn",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fxn",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZYW7-1",
            "evidence": [
                {
                    "id": "0111218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54100-1",
            "uniprot_ac": "P54100",
            "uniprot_id": "VAV_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proto-oncogene vav",
                    "type": "recommended"
                },
                {
                    "name": "p95",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vav1",
                    "type": "recommended"
                },
                {
                    "name": "Vav",
                    "type": "synonym"
                }
            ],
            "record_id": "P54100-1",
            "evidence": [
                {
                    "id": "0111218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W385-1",
            "uniprot_ac": "Q9W385",
            "uniprot_id": "FRDA_DROME",
            "refseq_ac": "NP_511094",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frataxin homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.16.3.1",
                    "type": "synonym"
                },
                {
                    "name": "CG8971-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dfh",
                    "type": "synonym"
                },
                {
                    "name": "drosophila frataxin homolog",
                    "type": "synonym"
                },
                {
                    "name": "fh-PA",
                    "type": "synonym"
                },
                {
                    "name": "frataxin homologue",
                    "type": "synonym"
                },
                {
                    "name": "frataxin-like",
                    "type": "synonym"
                },
                {
                    "name": "frataxin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fh",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT09528",
                    "type": "synonym"
                },
                {
                    "name": "CG8971",
                    "type": "synonym"
                },
                {
                    "name": "DFH",
                    "type": "synonym"
                },
                {
                    "name": "Dfh",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8971",
                    "type": "synonym"
                },
                {
                    "name": "Fh",
                    "type": "synonym"
                },
                {
                    "name": "X25",
                    "type": "synonym"
                },
                {
                    "name": "dfh",
                    "type": "synonym"
                },
                {
                    "name": "fh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W385-1",
            "evidence": [
                {
                    "id": "0111218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111218"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111218"
}