{
    "disease_id": "DOID:0060335",
    "recommended_name": {
        "id": "DOID:0060335",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060335",
        "name": "autosomal dominant sideroblastic anemia 4",
        "description": "A sideroblastic anemia characterized by an autosomal dominant inheritance pattern."
    },
    "synonyms": [
        {
            "id": "MONDO:0008422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008422",
            "name": "autosomal dominant sideroblastic anemia",
            "description": "Autosomal dominant form of sideroblastic anemia."
        },
        {
            "id": "MONDO:0008422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008422",
            "name": "sideroblastic anemia, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008422",
            "name": "SIDBA4",
            "description": ""
        },
        {
            "id": "MIM:182170",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/182170",
            "name": "Anemia, sideroblastic, 4",
            "description": "Anemia, sideroblastic, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060335"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060335",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060335",
            "categories": []
        },
        {
            "id": "MONDO:0008422",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008422",
            "categories": []
        },
        {
            "id": "MIM:182170",
            "database": "MIM",
            "url": "https://www.omim.org/entry/182170",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P38647-1",
            "uniprot_ac": "P38647",
            "uniprot_id": "HSPA9_MOUSE",
            "refseq_ac": "NP_034611",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Stress-70 protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.10",
                    "type": "synonym"
                },
                {
                    "name": "75 kDa glucose-regulated protein",
                    "type": "synonym"
                },
                {
                    "name": "C3H-specific antigen",
                    "type": "synonym"
                },
                {
                    "name": "GRP-75",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock 70 kDa protein 9",
                    "type": "synonym"
                },
                {
                    "name": "Mortalin",
                    "type": "synonym"
                },
                {
                    "name": "PBP74",
                    "type": "synonym"
                },
                {
                    "name": "Peptide-binding protein 74",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 70 kDa protein 9",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 9A",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein cognate 74",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein, 74 kDa, A",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein, A",
                    "type": "synonym"
                },
                {
                    "name": "p66 MOT",
                    "type": "synonym"
                },
                {
                    "name": "peptide-binding protein 74",
                    "type": "synonym"
                },
                {
                    "name": "stress-70 protein, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hspa9",
                    "type": "recommended"
                },
                {
                    "name": "74kDa",
                    "type": "synonym"
                },
                {
                    "name": "Csa",
                    "type": "synonym"
                },
                {
                    "name": "Grp75",
                    "type": "synonym"
                },
                {
                    "name": "Hsc74",
                    "type": "synonym"
                },
                {
                    "name": "Hsp74a",
                    "type": "synonym"
                },
                {
                    "name": "Hsp74",
                    "type": "synonym"
                },
                {
                    "name": "Hspa9a",
                    "type": "synonym"
                },
                {
                    "name": "Hspa9",
                    "type": "synonym"
                },
                {
                    "name": "Mortalin",
                    "type": "synonym"
                },
                {
                    "name": "Mot-2",
                    "type": "synonym"
                },
                {
                    "name": "Mot2",
                    "type": "synonym"
                },
                {
                    "name": "Mthsp70",
                    "type": "synonym"
                },
                {
                    "name": "Pbp74",
                    "type": "synonym"
                }
            ],
            "record_id": "P38647-1",
            "evidence": [
                {
                    "id": "0060335",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060335"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38646-1",
            "uniprot_ac": "P38646",
            "uniprot_id": "HSPA9_HUMAN",
            "refseq_ac": "NP_004125",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Stress-70 protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.10",
                    "type": "synonym"
                },
                {
                    "name": "75 kDa glucose-regulated protein",
                    "type": "synonym"
                },
                {
                    "name": "GRP-75",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock 70 kDa protein 9",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein family A member 9",
                    "type": "synonym"
                },
                {
                    "name": "MOT",
                    "type": "synonym"
                },
                {
                    "name": "Mortalin",
                    "type": "synonym"
                },
                {
                    "name": "PBP74",
                    "type": "synonym"
                },
                {
                    "name": "Peptide-binding protein 74",
                    "type": "synonym"
                },
                {
                    "name": "catecholamine-regulated protein 40",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 124m",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 70kD protein 9B",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 70kDa protein 9 (mortalin)",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein family A member 9",
                    "type": "synonym"
                },
                {
                    "name": "mortalin, perinuclear",
                    "type": "synonym"
                },
                {
                    "name": "mortalin-2",
                    "type": "synonym"
                },
                {
                    "name": "mortalin2",
                    "type": "synonym"
                },
                {
                    "name": "p66-mortalin",
                    "type": "synonym"
                },
                {
                    "name": "peptide-binding protein 74",
                    "type": "synonym"
                },
                {
                    "name": "stress-70 protein, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "stress-70 protein, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HSPA9",
                    "type": "recommended"
                },
                {
                    "name": "CRP40",
                    "type": "synonym"
                },
                {
                    "name": "CSA",
                    "type": "synonym"
                },
                {
                    "name": "EVPLS",
                    "type": "synonym"
                },
                {
                    "name": "GRP-75",
                    "type": "synonym"
                },
                {
                    "name": "GRP75",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-124m",
                    "type": "synonym"
                },
                {
                    "name": "HSPA9B",
                    "type": "synonym"
                },
                {
                    "name": "HSPA9",
                    "type": "synonym"
                },
                {
                    "name": "MOT2",
                    "type": "synonym"
                },
                {
                    "name": "MOT",
                    "type": "synonym"
                },
                {
                    "name": "MTHSP75",
                    "type": "synonym"
                },
                {
                    "name": "PBP74",
                    "type": "synonym"
                },
                {
                    "name": "SAAN",
                    "type": "synonym"
                },
                {
                    "name": "SIDBA4",
                    "type": "synonym"
                },
                {
                    "name": "mt-HSP70",
                    "type": "synonym"
                }
            ],
            "record_id": "P38646-1",
            "evidence": [
                {
                    "id": "182170",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/182170"
                },
                {
                    "id": "0060335",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060335"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39987-1",
            "uniprot_ac": "P39987",
            "uniprot_id": "HSP7E_YEAST",
            "refseq_ac": "NP_010884",
            "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": "Heat shock protein SSC3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Extracellular mutant protein 10",
                    "type": "synonym"
                },
                {
                    "name": "Hsp70 family ATPase ECM10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ECM10",
                    "type": "recommended"
                },
                {
                    "name": "ECM10",
                    "type": "synonym"
                },
                {
                    "name": "SSC3",
                    "type": "synonym"
                }
            ],
            "record_id": "P39987-1",
            "evidence": [
                {
                    "id": "0060335",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060335"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0CS90-1",
            "uniprot_ac": "P0CS90",
            "uniprot_id": "HSP77_YEAST",
            "refseq_ac": "NP_012579",
            "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": "Import motor subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.10",
                    "type": "synonym"
                },
                {
                    "name": "Endo.SceI 75 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Endonuclease SceI 75 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Hsp70 family ATPase SSC1",
                    "type": "synonym"
                },
                {
                    "name": "mtHSP70",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SSC1",
                    "type": "recommended"
                },
                {
                    "name": "ENS1",
                    "type": "synonym"
                },
                {
                    "name": "J1639",
                    "type": "synonym"
                },
                {
                    "name": "SSC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CS90-1",
            "evidence": [
                {
                    "id": "0060335",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060335"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48721-1",
            "uniprot_ac": "P48721",
            "uniprot_id": "HSPA9_RAT",
            "refseq_ac": "NP_001094128",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Stress-70 protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.10",
                    "type": "synonym"
                },
                {
                    "name": "75 kDa glucose-regulated protein",
                    "type": "synonym"
                },
                {
                    "name": "GRP 75",
                    "type": "synonym"
                },
                {
                    "name": "GRP-75",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock 70 kDa protein 9",
                    "type": "synonym"
                },
                {
                    "name": "Mortalin",
                    "type": "synonym"
                },
                {
                    "name": "PBP74",
                    "type": "synonym"
                },
                {
                    "name": "Peptide-binding protein 74",
                    "type": "synonym"
                },
                {
                    "name": "catecholamine regulated protein 40",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 70 kDa protein 9",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 70kDa protein 9A",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 9",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein family A member 9",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein, A",
                    "type": "synonym"
                },
                {
                    "name": "mortalin",
                    "type": "synonym"
                },
                {
                    "name": "mtHSP70",
                    "type": "synonym"
                },
                {
                    "name": "peptide-binding protein 74",
                    "type": "synonym"
                },
                {
                    "name": "stress-70 protein, mitochondrial-like",
                    "type": "synonym"
                },
                {
                    "name": "stress-70 protein, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hspa9",
                    "type": "recommended"
                },
                {
                    "name": "Crp40",
                    "type": "synonym"
                },
                {
                    "name": "GRP-75",
                    "type": "synonym"
                },
                {
                    "name": "Grp75",
                    "type": "synonym"
                },
                {
                    "name": "Hspa9a",
                    "type": "synonym"
                },
                {
                    "name": "Hspa9",
                    "type": "synonym"
                },
                {
                    "name": "PBP74",
                    "type": "synonym"
                }
            ],
            "record_id": "P48721-1",
            "evidence": [
                {
                    "id": "0060335",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060335"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29845-1",
            "uniprot_ac": "P29845",
            "uniprot_id": "HSP7E_DROME",
            "refseq_ac": "NP_001286414",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock 70 kDa protein cognate 5",
                    "type": "recommended"
                },
                {
                    "name": "70 kDa heat shock protein, mitochondrial 1",
                    "type": "synonym"
                },
                {
                    "name": "CG8542-PB",
                    "type": "synonym"
                },
                {
                    "name": "Hsc70-5-PB",
                    "type": "synonym"
                },
                {
                    "name": "Hsp cognate 5",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 70 kDa protein cognate 5",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 70 cognate 5, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein cognate 5",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein cognate 71",
                    "type": "synonym"
                },
                {
                    "name": "mortalin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hsc70-5",
                    "type": "recommended"
                },
                {
                    "name": "CG8542",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8542",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8542",
                    "type": "synonym"
                },
                {
                    "name": "HSC-70",
                    "type": "synonym"
                },
                {
                    "name": "HSC5",
                    "type": "synonym"
                },
                {
                    "name": "HSC70-5",
                    "type": "synonym"
                },
                {
                    "name": "HSC70",
                    "type": "synonym"
                },
                {
                    "name": "HSP70m1",
                    "type": "synonym"
                },
                {
                    "name": "Hsc-5",
                    "type": "synonym"
                },
                {
                    "name": "Hsc-70-5",
                    "type": "synonym"
                },
                {
                    "name": "Hsc5",
                    "type": "synonym"
                },
                {
                    "name": "Hsc70-5",
                    "type": "synonym"
                },
                {
                    "name": "Hsc70",
                    "type": "synonym"
                },
                {
                    "name": "Hsp-c5",
                    "type": "synonym"
                },
                {
                    "name": "dHSC70-5",
                    "type": "synonym"
                },
                {
                    "name": "dhsc70",
                    "type": "synonym"
                },
                {
                    "name": "hsc-70-5",
                    "type": "synonym"
                },
                {
                    "name": "hsc5",
                    "type": "synonym"
                },
                {
                    "name": "hsc70-5",
                    "type": "synonym"
                },
                {
                    "name": "hsc70",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k04907",
                    "type": "synonym"
                },
                {
                    "name": "mtHsc70",
                    "type": "synonym"
                }
            ],
            "record_id": "P29845-1",
            "evidence": [
                {
                    "id": "0060335",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060335"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060335"
}