{
    "disease_id": "DOID:0080343",
    "recommended_name": {
        "id": "DOID:0080343",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080343",
        "name": "autosomal recessive pyridoxine-refractory sideroblastic anemia 3",
        "description": "A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "MONDO:0014804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014804",
            "name": "sideroblastic anemia 3",
            "description": ""
        },
        {
            "id": "MONDO:0014804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014804",
            "name": "GLRX5-related sideroblastic anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0014804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014804",
            "name": "GLRX5-related sideroblastic anemia",
            "description": ""
        },
        {
            "id": "MONDO:0014804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014804",
            "name": "SIDBA3",
            "description": ""
        },
        {
            "id": "MONDO:0014804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014804",
            "name": "adult-onset autosomal recessive sideroblastic anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0014804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014804",
            "name": "adult-onset autosomal recessive sideroblastic anemia",
            "description": ""
        },
        {
            "id": "MONDO:0014804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014804",
            "name": "anemia, sideroblastic, 3, pyridoxine-refractory",
            "description": ""
        },
        {
            "id": "MIM:616860",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616860",
            "name": "Anemia, sideroblastic, 3, pyridoxine-refractory",
            "description": "Anemia, sideroblastic, 3, pyridoxine-refractory"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080343"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080343",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080343",
            "categories": []
        },
        {
            "id": "MONDO:0014804",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014804",
            "categories": []
        },
        {
            "id": "MIM:616860",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616860",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PBM1-1",
            "uniprot_ac": "Q6PBM1",
            "uniprot_id": "GLRX5_DANRE",
            "refseq_ac": "NP_998186",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutaredoxin-related protein 5, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Monothiol glutaredoxin-5",
                    "type": "synonym"
                },
                {
                    "name": "glutaredoxin-related protein 5, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "monothiol glutaredoxin-5",
                    "type": "synonym"
                },
                {
                    "name": "shiraz",
                    "type": "synonym"
                },
                {
                    "name": "shz",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "glrx5",
                    "type": "recommended"
                },
                {
                    "name": "glrx5",
                    "type": "synonym"
                },
                {
                    "name": "grx5",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd5119",
                    "type": "synonym"
                },
                {
                    "name": "shiraz",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-121d13.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa09g08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73343",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PBM1-1",
            "evidence": [
                {
                    "id": "0080343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080343"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80Y14-1",
            "uniprot_ac": "Q80Y14",
            "uniprot_id": "GLRX5_MOUSE",
            "refseq_ac": "NP_082695",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutaredoxin-related protein 5, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Monothiol glutaredoxin-5",
                    "type": "synonym"
                },
                {
                    "name": "glutaredoxin 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "glutaredoxin-related protein 5, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "monothiol glutaredoxin-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glrx5",
                    "type": "recommended"
                },
                {
                    "name": "Glrx5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80Y14-1",
            "evidence": [
                {
                    "id": "0080343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080343"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86SX6-1",
            "uniprot_ac": "Q86SX6",
            "uniprot_id": "GLRX5_HUMAN",
            "refseq_ac": "NP_057501",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutaredoxin-related protein 5, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Monothiol glutaredoxin-5",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "glutaredoxin 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "glutaredoxin-related protein 5, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutaredoxin-related protein 5, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "monothiol glutaredoxin-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLRX5",
                    "type": "recommended"
                },
                {
                    "name": "C14orf87",
                    "type": "synonym"
                },
                {
                    "name": "FLB4739",
                    "type": "synonym"
                },
                {
                    "name": "GLRX5",
                    "type": "synonym"
                },
                {
                    "name": "GRX5",
                    "type": "synonym"
                },
                {
                    "name": "PR01238",
                    "type": "synonym"
                },
                {
                    "name": "PRO1238",
                    "type": "synonym"
                },
                {
                    "name": "PRSA",
                    "type": "synonym"
                },
                {
                    "name": "SIDBA3",
                    "type": "synonym"
                },
                {
                    "name": "SPAHGC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86SX6-1",
            "evidence": [
                {
                    "id": "616860",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616860"
                },
                {
                    "id": "0080343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080343"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02784-1",
            "uniprot_ac": "Q02784",
            "uniprot_id": "GLRX5_YEAST",
            "refseq_ac": "NP_015266",
            "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": "Monothiol glutaredoxin-5, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "monothiol glutaredoxin GRX5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRX5",
                    "type": "recommended"
                },
                {
                    "name": "GRX5",
                    "type": "synonym"
                },
                {
                    "name": "LPE13W",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02784-1",
            "evidence": [
                {
                    "id": "0080343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080343"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ADD7-1",
            "uniprot_ac": "D4ADD7",
            "uniprot_id": "D4ADD7_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": "Glutaredoxin-related protein 5, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Monothiol glutaredoxin-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glrx5",
                    "type": "recommended"
                }
            ],
            "record_id": "D4ADD7-1",
            "evidence": [
                {
                    "id": "0080343",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080343"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080343"
}