{
    "disease_id": "DOID:0050476",
    "recommended_name": {
        "id": "DOID:0050476",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050476",
        "name": "Barth syndrome",
        "description": "A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin."
    },
    "synonyms": [
        {
            "id": "DOID:0050476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050476",
            "name": "3-methylglutaconicaciduria type 2",
            "description": ""
        },
        {
            "id": "DOID:0050476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050476",
            "name": "3-methylglutaconicaciduria type II",
            "description": ""
        },
        {
            "id": "DOID:0050476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050476",
            "name": "MGA Type 2",
            "description": ""
        },
        {
            "id": "DOID:0050476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050476",
            "name": "MGA type II",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "Barth syndrome",
            "description": "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria."
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "3-methylglutaconic aciduria type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "BTHS",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "Barth syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "Barth syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "MGA2",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "X-linked cardioskeletal myopathy and neutropenia",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "cardioskeletal myopathy with neutropenia and abnormal mitochondria",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "cardioskeletal myopathy-neutropenia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "3-methylglutaconic aciduria type II",
            "description": ""
        },
        {
            "id": "MONDO:0010543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "name": "TAZ defect",
            "description": ""
        },
        {
            "id": "MIM:302060",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/302060",
            "name": "Barth syndrome",
            "description": "Barth syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050476"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050476",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050476",
            "categories": []
        },
        {
            "id": "MONDO:0010543",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010543",
            "categories": []
        },
        {
            "id": "MIM:302060",
            "database": "MIM",
            "url": "https://www.omim.org/entry/302060",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QCP6-1",
            "uniprot_ac": "F1QCP6",
            "uniprot_id": "TAZ_DANRE",
            "refseq_ac": "NP_001001814",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tafazzin",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Taz",
                    "type": "synonym"
                },
                {
                    "name": "tafazzin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tafazzin",
                    "type": "recommended"
                },
                {
                    "name": "tafazzin",
                    "type": "synonym"
                },
                {
                    "name": "taz",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb39f12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91803",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QCP6-1",
            "evidence": [
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q1L8N7-1",
            "uniprot_ac": "Q1L8N7",
            "uniprot_id": "Q1L8N7_DANRE",
            "refseq_ac": "NP_571118",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mesoderm-specific transcript homolog protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha/beta hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "mesoderm-specific transcript homolog protein isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mest",
                    "type": "recommended"
                },
                {
                    "name": "Zpeg1",
                    "type": "synonym"
                },
                {
                    "name": "mest",
                    "type": "synonym"
                },
                {
                    "name": "peg1/mest",
                    "type": "synonym"
                },
                {
                    "name": "peg1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L8N7-1",
            "evidence": [
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91WF0-1",
            "uniprot_ac": "Q91WF0",
            "uniprot_id": "TAZ_MOUSE",
            "refseq_ac": "NP_001229545",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tafazzin",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Taz",
                    "type": "synonym"
                },
                {
                    "name": "tafazzin isoform 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tafazzin",
                    "type": "recommended"
                },
                {
                    "name": "5031411C02Rik",
                    "type": "synonym"
                },
                {
                    "name": "9130012G04Rik",
                    "type": "synonym"
                },
                {
                    "name": "G4.5",
                    "type": "synonym"
                },
                {
                    "name": "TAZ",
                    "type": "synonym"
                },
                {
                    "name": "Tafazzin",
                    "type": "synonym"
                },
                {
                    "name": "Taz",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91WF0-1",
            "evidence": [
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07646-1",
            "uniprot_ac": "Q07646",
            "uniprot_id": "MEST_MOUSE",
            "refseq_ac": "NP_001239221",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mesoderm-specific transcript protein",
                    "type": "recommended"
                },
                {
                    "name": "3.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Paternally-expressed gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "mesoderm-specific transcript protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mesoderm-specific transcript protein",
                    "type": "synonym"
                },
                {
                    "name": "paternally-expressed gene 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mest",
                    "type": "recommended"
                },
                {
                    "name": "121a",
                    "type": "synonym"
                },
                {
                    "name": "Mest",
                    "type": "synonym"
                },
                {
                    "name": "Peg1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07646-1",
            "evidence": [
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26883-1",
            "uniprot_ac": "P26883",
            "uniprot_id": "FKB1A_MOUSE",
            "refseq_ac": "NP_001289006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase FKBP1A",
                    "type": "recommended"
                },
                {
                    "name": "12 kDa FK506-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "12 kDa FKBP",
                    "type": "synonym"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "Calstabin-1",
                    "type": "synonym"
                },
                {
                    "name": "FK506 binding protein 12",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-12",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-1A",
                    "type": "synonym"
                },
                {
                    "name": "Immunophilin FKBP12",
                    "type": "synonym"
                },
                {
                    "name": "PPIase FKBP1A",
                    "type": "synonym"
                },
                {
                    "name": "Rotamase",
                    "type": "synonym"
                },
                {
                    "name": "calstabin-1",
                    "type": "synonym"
                },
                {
                    "name": "immunophilin FKBP12",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP1A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP1A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fkbp1a",
                    "type": "recommended"
                },
                {
                    "name": "FKBP12",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp1a",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp1",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp",
                    "type": "synonym"
                }
            ],
            "record_id": "P26883-1",
            "evidence": [
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5NCE8-1",
            "uniprot_ac": "Q5NCE8",
            "uniprot_id": "MRS2_MOUSE",
            "refseq_ac": "NP_001013407",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Magnesium transporter MRS2 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "MRS2 magnesium homeostasis factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "MRS2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter MRS2 homolog, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter MRS2 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrs2",
                    "type": "recommended"
                },
                {
                    "name": "Gm902",
                    "type": "synonym"
                },
                {
                    "name": "HPT",
                    "type": "synonym"
                },
                {
                    "name": "Mrs2l",
                    "type": "synonym"
                },
                {
                    "name": "Mrs2",
                    "type": "synonym"
                },
                {
                    "name": "RPT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5NCE8-1",
            "evidence": [
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16635-3",
            "uniprot_ac": "Q16635",
            "uniprot_id": "TAZ_HUMAN",
            "refseq_ac": "NP_000107",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tafazzin",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Protein G4.5",
                    "type": "synonym"
                },
                {
                    "name": "Taz",
                    "type": "synonym"
                },
                {
                    "name": "protein G4.5",
                    "type": "synonym"
                },
                {
                    "name": "tafazzin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAFAZZIN",
                    "type": "recommended"
                },
                {
                    "name": "BTHS",
                    "type": "synonym"
                },
                {
                    "name": "CMD3A",
                    "type": "synonym"
                },
                {
                    "name": "EFE2",
                    "type": "synonym"
                },
                {
                    "name": "EFE",
                    "type": "synonym"
                },
                {
                    "name": "G4.5",
                    "type": "synonym"
                },
                {
                    "name": "LVNCX",
                    "type": "synonym"
                },
                {
                    "name": "TAFAZZIN",
                    "type": "synonym"
                },
                {
                    "name": "TAZ",
                    "type": "synonym"
                },
                {
                    "name": "Taz1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16635-3",
            "evidence": [
                {
                    "id": "302060",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/302060"
                },
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06510-1",
            "uniprot_ac": "Q06510",
            "uniprot_id": "TAZ_YEAST",
            "refseq_ac": "NP_015466",
            "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": "Tafazzin",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Taz",
                    "type": "synonym"
                },
                {
                    "name": "lysophosphatidylcholine acyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAZ1",
                    "type": "recommended"
                },
                {
                    "name": "TAZ1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06510-1",
            "evidence": [
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01926-1",
            "uniprot_ac": "Q01926",
            "uniprot_id": "MRS2_YEAST",
            "refseq_ac": "NP_014979",
            "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": "Magnesium transporter MRS2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Mrs2p",
                    "type": "synonym"
                },
                {
                    "name": "RNA-splicing protein MRS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRS2",
                    "type": "recommended"
                },
                {
                    "name": "MRS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01926-1",
            "evidence": [
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20081-1",
            "uniprot_ac": "P20081",
            "uniprot_id": "FKBP_YEAST",
            "refseq_ac": "NP_014264",
            "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": "FK506-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "12-kDa cytosolic FK506-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-12",
                    "type": "synonym"
                },
                {
                    "name": "FKBP",
                    "type": "synonym"
                },
                {
                    "name": "PPIase",
                    "type": "synonym"
                },
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Rapamycin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "peptidylprolyl isomerase FPR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FPR1",
                    "type": "recommended"
                },
                {
                    "name": "FKB1",
                    "type": "synonym"
                },
                {
                    "name": "FPR1",
                    "type": "synonym"
                },
                {
                    "name": "N1213",
                    "type": "synonym"
                },
                {
                    "name": "N1845",
                    "type": "synonym"
                },
                {
                    "name": "RBP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P20081-1",
            "evidence": [
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K0X0-1",
            "uniprot_ac": "A0A0G2K0X0",
            "uniprot_id": "A0A0G2K0X0_RAT",
            "refseq_ac": "XP_038955846",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tafazzin family protein",
                    "type": "recommended"
                },
                {
                    "name": "tafazzin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tafazzin",
                    "type": "recommended"
                },
                {
                    "name": "TAZ",
                    "type": "synonym"
                },
                {
                    "name": "Tafazzin",
                    "type": "synonym"
                },
                {
                    "name": "Taz",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K0X0-1",
            "evidence": [
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ET09-1",
            "uniprot_ac": "Q9ET09",
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            "refseq_ac": "NP_076491",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Magnesium transporter MRS2 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "MRS2 magnesium homeostasis factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "MRS2 magnesium transporter",
                    "type": "synonym"
                },
                {
                    "name": "MRS2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "MRS2-like, magnesium homeostasis factor",
                    "type": "synonym"
                },
                {
                    "name": "RPT protein similar to yeast MRS2",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter MRS2 homolog, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter MRS2 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrs2",
                    "type": "recommended"
                },
                {
                    "name": "Mrs2l",
                    "type": "synonym"
                },
                {
                    "name": "Mrs2",
                    "type": "synonym"
                },
                {
                    "name": "Rpt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ET09-1",
            "evidence": [
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62658-1",
            "uniprot_ac": "Q62658",
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            "refseq_ac": "NP_037234",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase FKBP1A",
                    "type": "recommended"
                },
                {
                    "name": "12 kDa FK506-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "12 kDa FKBP",
                    "type": "synonym"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "FK506 binding protein 1a",
                    "type": "synonym"
                },
                {
                    "name": "FK506 binding protein 2 (13 kDa)",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 1 (12kD)",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-12",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-1A",
                    "type": "synonym"
                },
                {
                    "name": "Immunophilin FKBP12",
                    "type": "synonym"
                },
                {
                    "name": "PPIase FKBP1A",
                    "type": "synonym"
                },
                {
                    "name": "Rotamase",
                    "type": "synonym"
                },
                {
                    "name": "immunophilin FKBP12",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP1A",
                    "type": "synonym"
                },
                {
                    "name": "rotamase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fkbp1a",
                    "type": "recommended"
                },
                {
                    "name": "FKBP12",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp1a",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp1",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62658-1",
            "evidence": [
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P5P5-1",
            "uniprot_ac": "Q6P5P5",
            "uniprot_id": "MEST_RAT",
            "refseq_ac": "NP_001009617",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mesoderm-specific transcript homolog protein",
                    "type": "recommended"
                },
                {
                    "name": "3.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "mesoderm specific transcript homolog",
                    "type": "synonym"
                },
                {
                    "name": "mesoderm-specific transcript homolog protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mest",
                    "type": "recommended"
                },
                {
                    "name": "Mest",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P5P5-1",
            "evidence": [
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23347-1",
            "uniprot_ac": "P23347",
            "uniprot_id": "B3A2_RAT",
            "refseq_ac": "NP_058744",
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            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anion exchange protein 2",
                    "type": "recommended"
                },
                {
                    "name": "AE 2",
                    "type": "synonym"
                },
                {
                    "name": "AE2 Cl-/HCO3-exchanger, variant AE2b",
                    "type": "synonym"
                },
                {
                    "name": "Anion exchanger 2",
                    "type": "synonym"
                },
                {
                    "name": "B3RP-2",
                    "type": "synonym"
                },
                {
                    "name": "Band 3-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Non-erythroid band 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 4 member 2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 4, member 2, anion exchange protein 2",
                    "type": "synonym"
                },
                {
                    "name": "anion exchange protein 2",
                    "type": "synonym"
                },
                {
                    "name": "anion exchanger 2",
                    "type": "synonym"
                },
                {
                    "name": "band 3-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "non-erythroid band 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4 (anion exchanger), member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc4a2",
                    "type": "recommended"
                },
                {
                    "name": "Ae2",
                    "type": "synonym"
                },
                {
                    "name": "Aep2",
                    "type": "synonym"
                },
                {
                    "name": "B3rp2",
                    "type": "synonym"
                },
                {
                    "name": "Slc4a2",
                    "type": "synonym"
                }
            ],
            "record_id": "P23347-1",
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                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V6G5-1",
            "uniprot_ac": "Q9V6G5",
            "uniprot_id": "TAZ_DROME",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Tafazzin",
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                },
                {
                    "name": "2.3.1.-",
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                },
                {
                    "name": "CG8766-PD",
                    "type": "synonym"
                },
                {
                    "name": "TAZ",
                    "type": "synonym"
                },
                {
                    "name": "Taz-PD",
                    "type": "synonym"
                },
                {
                    "name": "dTAZ",
                    "type": "synonym"
                },
                {
                    "name": "tafazzin, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "tafazzins",
                    "type": "synonym"
                },
                {
                    "name": "tafazzin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taz",
                    "type": "recommended"
                },
                {
                    "name": "CG8766",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8766",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8766",
                    "type": "synonym"
                },
                {
                    "name": "TAZ",
                    "type": "synonym"
                },
                {
                    "name": "Taz",
                    "type": "synonym"
                },
                {
                    "name": "dTAZ",
                    "type": "synonym"
                },
                {
                    "name": "dTaz",
                    "type": "synonym"
                },
                {
                    "name": "tafazzin",
                    "type": "synonym"
                },
                {
                    "name": "taz",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V6G5-1",
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                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48375-1",
            "uniprot_ac": "P48375",
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            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase Fkbp12",
                    "type": "recommended"
                },
                {
                    "name": "12 kDa FK506-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "12 kDa FKBP",
                    "type": "synonym"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "CG11001-PA",
                    "type": "synonym"
                },
                {
                    "name": "DmFKBP12",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 12kD",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp12-PA",
                    "type": "synonym"
                },
                {
                    "name": "Macrolide-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "PPIase Fkbp12",
                    "type": "synonym"
                },
                {
                    "name": "PPIase",
                    "type": "synonym"
                },
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Rotamase",
                    "type": "synonym"
                },
                {
                    "name": "calstabin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fkbp12",
                    "type": "recommended"
                },
                {
                    "name": "11001",
                    "type": "synonym"
                },
                {
                    "name": "143729_at",
                    "type": "synonym"
                },
                {
                    "name": "CG11001",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11001",
                    "type": "synonym"
                },
                {
                    "name": "DrFKBP12",
                    "type": "synonym"
                },
                {
                    "name": "FK506-BP2",
                    "type": "synonym"
                },
                {
                    "name": "FK506-bp2",
                    "type": "synonym"
                },
                {
                    "name": "FKBP12",
                    "type": "synonym"
                },
                {
                    "name": "FKBP",
                    "type": "synonym"
                },
                {
                    "name": "Fk506-bp2",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp12",
                    "type": "synonym"
                },
                {
                    "name": "dFKBP12",
                    "type": "synonym"
                },
                {
                    "name": "fkbp",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HD23-1",
            "uniprot_ac": "Q9HD23",
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            "refseq_ac": "NP_001273195",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Magnesium transporter MRS2 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "MRS2, magnesium transporter",
                    "type": "synonym"
                },
                {
                    "name": "MRS2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "MRS2-like, magnesium homeostasis factor",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter MRS2 homolog, mitochondrial isoform d",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter MRS2 homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "putative magnesium transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRS2",
                    "type": "recommended"
                },
                {
                    "name": "HPT",
                    "type": "synonym"
                },
                {
                    "name": "MRS2L",
                    "type": "synonym"
                },
                {
                    "name": "MRS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HD23-1",
            "evidence": [
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5VVH2-1",
            "uniprot_ac": "Q5VVH2",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase FKBP1C",
                    "type": "recommended"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "FK506 binding protein 1C",
                    "type": "synonym"
                },
                {
                    "name": "FKBP prolyl isomerase 1C",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP1C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FKBP1C",
                    "type": "recommended"
                },
                {
                    "name": "FKBP1C",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62942-1",
            "uniprot_ac": "P62942",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase FKBP1A",
                    "type": "recommended"
                },
                {
                    "name": "12 kDa FK506-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "12 kDa FKBP",
                    "type": "synonym"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "Calstabin-1",
                    "type": "synonym"
                },
                {
                    "name": "FK506 binding protein 1A, 12kDa",
                    "type": "synonym"
                },
                {
                    "name": "FK506 binding protein12",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 12",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein, T-cell, 12-kD",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-12",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-1A",
                    "type": "synonym"
                },
                {
                    "name": "FKBP12-Exip3",
                    "type": "synonym"
                },
                {
                    "name": "Immunophilin FKBP12",
                    "type": "synonym"
                },
                {
                    "name": "PPIase FKBP1A",
                    "type": "synonym"
                },
                {
                    "name": "Rotamase",
                    "type": "synonym"
                },
                {
                    "name": "calstabin-1",
                    "type": "synonym"
                },
                {
                    "name": "immunophilin FKBP12",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP1A isoform a",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP1A",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C inhibitor 2",
                    "type": "synonym"
                },
                {
                    "name": "rotamase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FKBP1A",
                    "type": "recommended"
                },
                {
                    "name": "FKBP-12",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-1A",
                    "type": "synonym"
                },
                {
                    "name": "FKBP12",
                    "type": "synonym"
                },
                {
                    "name": "FKBP1A",
                    "type": "synonym"
                },
                {
                    "name": "FKBP1",
                    "type": "synonym"
                },
                {
                    "name": "PKC12",
                    "type": "synonym"
                },
                {
                    "name": "PKCI2",
                    "type": "synonym"
                },
                {
                    "name": "PPIASE",
                    "type": "synonym"
                }
            ],
            "record_id": "P62942-1",
            "evidence": [
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5EB52-1",
            "uniprot_ac": "Q5EB52",
            "uniprot_id": "MEST_HUMAN",
            "refseq_ac": "NP_001240829",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mesoderm-specific transcript homolog protein",
                    "type": "recommended"
                },
                {
                    "name": "3.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Paternally-expressed gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "mesoderm-specific transcript homolog protein isoform c",
                    "type": "synonym"
                },
                {
                    "name": "paternally-expressed gene 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MEST",
                    "type": "recommended"
                },
                {
                    "name": "MEST",
                    "type": "synonym"
                },
                {
                    "name": "PEG1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5EB52-1",
            "evidence": [
                {
                    "id": "0050476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050476"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050476"
}