{
    "disease_id": "DOID:0061007",
    "recommended_name": {
        "id": "DOID:0061007",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061007",
        "name": "sideroblastic anemia 5",
        "description": "A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that has_material_basis_in compound heterozygous mutation in the HSCB gene on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "DOID:0061007",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061007",
            "name": "SIDBA5",
            "description": ""
        },
        {
            "id": "MONDO:0030436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030436",
            "name": "anemia, sideroblastic, 5",
            "description": ""
        },
        {
            "id": "MONDO:0030436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030436",
            "name": "SIDBA5",
            "description": ""
        },
        {
            "id": "MIM:619523",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619523",
            "name": "Anemia, sideroblastic, 5",
            "description": "Anemia, sideroblastic, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061007"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061007",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061007",
            "categories": []
        },
        {
            "id": "MONDO:0030436",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030436",
            "categories": []
        },
        {
            "id": "MIM:619523",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619523",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0V1J6-1",
            "uniprot_ac": "B0V1J6",
            "uniprot_id": "B0V1J6_DANRE",
            "refseq_ac": "NP_001121870",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur cluster co-chaperone protein HscB",
                    "type": "recommended"
                },
                {
                    "name": "iron-sulfur cluster co-chaperone protein HscB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hscb",
                    "type": "recommended"
                },
                {
                    "name": "hscb",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-207k7.4",
                    "type": "synonym"
                }
            ],
            "record_id": "B0V1J6-1",
            "evidence": [
                {
                    "id": "0061007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K3A0-1",
            "uniprot_ac": "Q8K3A0",
            "uniprot_id": "HSC20_MOUSE",
            "refseq_ac": "NP_705799",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur cluster co-chaperone protein HscB",
                    "type": "recommended"
                },
                {
                    "name": "HscB iron-sulfur cluster co-chaperone homolog",
                    "type": "synonym"
                },
                {
                    "name": "J-type co-chaperone HSC20",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster co-chaperone protein HscB isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster co-chaperone protein HscB, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hscb",
                    "type": "recommended"
                },
                {
                    "name": "Hsc20",
                    "type": "synonym"
                },
                {
                    "name": "Hscb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K3A0-1",
            "evidence": [
                {
                    "id": "0061007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IWL3-1",
            "uniprot_ac": "Q8IWL3",
            "uniprot_id": "HSC20_HUMAN",
            "refseq_ac": "NP_741999",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur cluster co-chaperone protein HscB",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ (Hsp40) homolog, subfamily C, member 20",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ homolog subfamily C member 20",
                    "type": "synonym"
                },
                {
                    "name": "HscB iron-sulfur cluster co-chaperone homolog",
                    "type": "synonym"
                },
                {
                    "name": "HscB mitochondrial iron-sulfur cluster co-chaperone",
                    "type": "synonym"
                },
                {
                    "name": "J-type co-chaperone HSC20",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster co-chaperone protein HscB isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster co-chaperone protein HscB, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HSCB",
                    "type": "recommended"
                },
                {
                    "name": "DNAJC20",
                    "type": "synonym"
                },
                {
                    "name": "HSC20",
                    "type": "synonym"
                },
                {
                    "name": "HSCB",
                    "type": "synonym"
                },
                {
                    "name": "JAC1",
                    "type": "synonym"
                },
                {
                    "name": "SIDBA5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IWL3-1",
            "evidence": [
                {
                    "id": "619523",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619523"
                },
                {
                    "id": "0061007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53193-1",
            "uniprot_ac": "P53193",
            "uniprot_id": "JAC1_YEAST",
            "refseq_ac": "NP_011497",
            "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": "J-type co-chaperone JAC1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "J-type accessory chaperone 1",
                    "type": "synonym"
                },
                {
                    "name": "J-type chaperone JAC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "JAC1",
                    "type": "recommended"
                },
                {
                    "name": "JAC1",
                    "type": "synonym"
                },
                {
                    "name": "SEO2",
                    "type": "synonym"
                }
            ],
            "record_id": "P53193-1",
            "evidence": [
                {
                    "id": "0061007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A2K9-1",
            "uniprot_ac": "A0A8I6A2K9",
            "uniprot_id": "A0A8I6A2K9_RAT",
            "refseq_ac": "XP_008767562",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "HscB mitochondrial iron-sulfur cluster co-chaperone",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster co-chaperone protein HscB isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hscb",
                    "type": "recommended"
                },
                {
                    "name": "Hscb",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311005",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A2K9-1",
            "evidence": [
                {
                    "id": "0061007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JNT7-1",
            "uniprot_ac": "A8JNT7",
            "uniprot_id": "A8JNT7_DROME",
            "refseq_ac": "NP_001097616",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG34246-PA",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein cognate 20",
                    "type": "synonym"
                },
                {
                    "name": "Hsc20-PA",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein cognate 20",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 72Do",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hsc20",
                    "type": "recommended"
                },
                {
                    "name": "CG34246",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34246",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34246",
                    "type": "synonym"
                },
                {
                    "name": "Hsc20",
                    "type": "synonym"
                },
                {
                    "name": "l(3)72Do",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JNT7-1",
            "evidence": [
                {
                    "id": "0061007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061007"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061007"
}