{
    "disease_id": "DOID:0050857",
    "recommended_name": {
        "id": "DOID:0050857",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050857",
        "name": "Perrault syndrome",
        "description": "A syndrome that is characterized by sensorineural hearing loss and ovarian failure."
    },
    "synonyms": [
        {
            "id": "MONDO:0009300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009300",
            "name": "Perrault syndrome 1",
            "description": "Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene."
        },
        {
            "id": "MONDO:0009300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009300",
            "name": "HSD17B4 Perrault syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009300",
            "name": "Perrault syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009300",
            "name": "Perrault syndrome caused by mutation in HSD17B4",
            "description": ""
        },
        {
            "id": "MONDO:0009300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009300",
            "name": "Perrault syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009300",
            "name": "PRLTS1",
            "description": ""
        },
        {
            "id": "MONDO:0013588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "name": "Perrault syndrome 3",
            "description": "Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene."
        },
        {
            "id": "MONDO:0013588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "name": "CLPP Perrault syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "name": "Perrault syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "name": "Perrault syndrome caused by mutation in CLPP",
            "description": ""
        },
        {
            "id": "MONDO:0013588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "name": "Perrault syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "name": "PRLTS3",
            "description": ""
        },
        {
            "id": "MONDO:0013588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "name": "deafness, autosomal recessive 81",
            "description": ""
        },
        {
            "id": "MONDO:0014126",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014126",
            "name": "Perrault syndrome 4",
            "description": "Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene."
        },
        {
            "id": "MONDO:0014126",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014126",
            "name": "LARS2 Perrault syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014126",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014126",
            "name": "Perrault syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0014126",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014126",
            "name": "Perrault syndrome caused by mutation in LARS2",
            "description": ""
        },
        {
            "id": "MONDO:0014126",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014126",
            "name": "Perrault syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014126",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014126",
            "name": "PRLTS4",
            "description": ""
        },
        {
            "id": "MIM:233400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/233400",
            "name": "Perrault syndrome 1",
            "description": "Perrault syndrome 1"
        },
        {
            "id": "MIM:614129",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614129",
            "name": "Perrault syndrome 3",
            "description": "Perrault syndrome 3"
        },
        {
            "id": "MIM:615300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615300",
            "name": "Perrault syndrome 4",
            "description": "Perrault syndrome 4"
        }
    ],
    "children": [
        {
            "id": "DOID:0061073",
            "label": "Perrault syndrome 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061117",
            "label": "Perrault syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080256",
            "label": "Perrault syndrome 6",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0061117",
        "DOID:0080256",
        "DOID:0050857",
        "DOID:0061073"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050857",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050857",
            "categories": []
        },
        {
            "id": "MONDO:0009300",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009300",
            "categories": []
        },
        {
            "id": "MONDO:0013588",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "categories": []
        },
        {
            "id": "MONDO:0014126",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014126",
            "categories": []
        },
        {
            "id": "MIM:233400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/233400",
            "categories": []
        },
        {
            "id": "MIM:614129",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614129",
            "categories": []
        },
        {
            "id": "MIM:615300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4ICC1-1",
            "uniprot_ac": "A0A0R4ICC1",
            "uniprot_id": "A0A0R4ICC1_DANRE",
            "refseq_ac": "NP_001264527",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Twinkle mtDNA helicase",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "Twinkle protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "progressive external ophthalmoplegia 1",
                    "type": "synonym"
                },
                {
                    "name": "twinkle mtDNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "twinkle protein, mitochondrial-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "twnk",
                    "type": "recommended"
                },
                {
                    "name": "fi04d09",
                    "type": "synonym"
                },
                {
                    "name": "peo1",
                    "type": "synonym"
                },
                {
                    "name": "twnk",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi04d09",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4ICC1-1",
            "evidence": [
                {
                    "id": "0050857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9QI36-1",
            "uniprot_ac": "E9QI36",
            "uniprot_id": "HARS1_DANRE",
            "refseq_ac": "NP_001289185",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histidine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.21",
                    "type": "synonym"
                },
                {
                    "name": "histidine--tRNA ligase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "histidine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hars",
                    "type": "recommended"
                },
                {
                    "name": "hars",
                    "type": "synonym"
                },
                {
                    "name": "im:7136719",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92215",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QI36-1",
            "evidence": [
                {
                    "id": "0050857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88696-1",
            "uniprot_ac": "O88696",
            "uniprot_id": "CLPP_MOUSE",
            "refseq_ac": "NP_059089",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent Clp protease proteolytic subunit, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.92",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent Clp protease proteolytic subunit, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "Caseinolytic mitochondrial matrix peptidase proteolytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "Endopeptidase Clp",
                    "type": "synonym"
                },
                {
                    "name": "caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog",
                    "type": "synonym"
                },
                {
                    "name": "caseinolytic protease, ATP-dependent, proteolytic subunit homolog",
                    "type": "synonym"
                },
                {
                    "name": "endopeptidase Clp",
                    "type": "synonym"
                },
                {
                    "name": "putative ATP-dependent Clp protease proteolytic subunit, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clpp",
                    "type": "recommended"
                },
                {
                    "name": "Clpp",
                    "type": "synonym"
                },
                {
                    "name": "D17Wsu160e",
                    "type": "synonym"
                }
            ],
            "record_id": "O88696-1",
            "evidence": [
                {
                    "id": "0050857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VDC0-1",
            "uniprot_ac": "Q8VDC0",
            "uniprot_id": "SYLM_MOUSE",
            "refseq_ac": "NP_001335096",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable leucine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.4",
                    "type": "synonym"
                },
                {
                    "name": "LeuRS",
                    "type": "synonym"
                },
                {
                    "name": "Leucyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "probable leucine--tRNA ligase, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable leucine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lars2",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0028",
                    "type": "synonym"
                },
                {
                    "name": "LEURS",
                    "type": "synonym"
                },
                {
                    "name": "Lars2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VDC0-1",
            "evidence": [
                {
                    "id": "0050857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51660-1",
            "uniprot_ac": "P51660",
            "uniprot_id": "DHB4_MOUSE",
            "refseq_ac": "NP_032318",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal multifunctional enzyme type 2",
                    "type": "recommended"
                },
                {
                    "name": "17-beta-HSD 4",
                    "type": "synonym"
                },
                {
                    "name": "17-beta-hydroxysteroid dehydrogenase 4",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "D-bifunctional protein",
                    "type": "synonym"
                },
                {
                    "name": "DBP",
                    "type": "synonym"
                },
                {
                    "name": "MFE-2",
                    "type": "synonym"
                },
                {
                    "name": "MFP-2",
                    "type": "synonym"
                },
                {
                    "name": "Multifunctional protein 2",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional protein 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal multifunctional enzyme type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hsd17b4",
                    "type": "recommended"
                },
                {
                    "name": "17-beta-HSD",
                    "type": "synonym"
                },
                {
                    "name": "17[b]-HSD",
                    "type": "synonym"
                },
                {
                    "name": "DBP",
                    "type": "synonym"
                },
                {
                    "name": "Edh17b4",
                    "type": "synonym"
                },
                {
                    "name": "Hsd17b4",
                    "type": "synonym"
                },
                {
                    "name": "MFE-2",
                    "type": "synonym"
                },
                {
                    "name": "MFP2",
                    "type": "synonym"
                },
                {
                    "name": "MPF-2",
                    "type": "synonym"
                },
                {
                    "name": "Mfp-2",
                    "type": "synonym"
                },
                {
                    "name": "perMFE-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P51660-1",
            "evidence": [
                {
                    "id": "0050857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CIW5-1",
            "uniprot_ac": "Q8CIW5",
            "uniprot_id": "PEO1_MOUSE",
            "refseq_ac": "NP_001335188",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Twinkle mtDNA helicase",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "Progressive external ophthalmoplegia 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "T7 gp4-like protein with intramitochondrial nucleoid localization",
                    "type": "synonym"
                },
                {
                    "name": "T7-like mitochondrial DNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "Twinkle protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "progressive external ophthalmoplegia 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "putative T7-like mitochodrial DNA helicase twinky",
                    "type": "synonym"
                },
                {
                    "name": "twinkle mtDNA helicase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "twinkle protein, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Twnk",
                    "type": "recommended"
                },
                {
                    "name": "D19Ertd626e",
                    "type": "synonym"
                },
                {
                    "name": "PEO",
                    "type": "synonym"
                },
                {
                    "name": "Peo1",
                    "type": "synonym"
                },
                {
                    "name": "Twinl",
                    "type": "synonym"
                },
                {
                    "name": "Twnk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CIW5-1",
            "evidence": [
                {
                    "id": "0050857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61035-1",
            "uniprot_ac": "Q61035",
            "uniprot_id": "HARS1_MOUSE",
            "refseq_ac": "NP_032240",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histidine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.21",
                    "type": "synonym"
                },
                {
                    "name": "HisRS",
                    "type": "synonym"
                },
                {
                    "name": "Histidyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "hisRS",
                    "type": "synonym"
                },
                {
                    "name": "histidine tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "histidine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "histidyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hars1",
                    "type": "recommended"
                },
                {
                    "name": "Hars1",
                    "type": "synonym"
                },
                {
                    "name": "Hars",
                    "type": "synonym"
                },
                {
                    "name": "MMHRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61035-1",
            "evidence": [
                {
                    "id": "0050857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99KK9-1",
            "uniprot_ac": "Q99KK9",
            "uniprot_id": "SYHM_MOUSE",
            "refseq_ac": "NP_542367",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histidine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.21",
                    "type": "synonym"
                },
                {
                    "name": "HisRS",
                    "type": "synonym"
                },
                {
                    "name": "Histidine--tRNA ligase-like",
                    "type": "synonym"
                },
                {
                    "name": "Histidyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "hisRS",
                    "type": "synonym"
                },
                {
                    "name": "histidine--tRNA ligase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "histidyl-tRNA synthetase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "probable histidine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable histidyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hars2",
                    "type": "recommended"
                },
                {
                    "name": "4631412B19Rik",
                    "type": "synonym"
                },
                {
                    "name": "HARSR",
                    "type": "synonym"
                },
                {
                    "name": "HO3",
                    "type": "synonym"
                },
                {
                    "name": "Hars2",
                    "type": "synonym"
                },
                {
                    "name": "Harsl",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050857"
                }
            ]
        },
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                {
                    "name": "Homo sapiens",
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                }
            ],
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                {
                    "name": "ATP-dependent Clp protease proteolytic subunit, mitochondrial",
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                {
                    "name": "3.4.21.92",
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                },
                {
                    "name": "ATP-dependent Clp protease proteolytic subunit, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent protease ClpAP, proteolytic subunit, human",
                    "type": "synonym"
                },
                {
                    "name": "Caseinolytic mitochondrial matrix peptidase proteolytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "ClpP caseinolytic peptidase ATP-dependent, proteolytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog",
                    "type": "synonym"
                },
                {
                    "name": "ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog",
                    "type": "synonym"
                },
                {
                    "name": "Endopeptidase Clp",
                    "type": "synonym"
                },
                {
                    "name": "endopeptidase Clp",
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                },
                {
                    "name": "putative ATP-dependent Clp protease proteolytic subunit, mitochondrial",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CLPP",
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                },
                {
                    "name": "CLPP",
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                },
                {
                    "name": "DFNB81",
                    "type": "synonym"
                },
                {
                    "name": "PRLTS3",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "614129",
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                },
                {
                    "id": "0050857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050857"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q15031-1",
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                {
                    "name": "Homo sapiens",
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                }
            ],
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                {
                    "name": "Leucine--tRNA ligase, mitochondrial",
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                {
                    "name": "6.1.1.4",
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                {
                    "name": "LeuRS",
                    "type": "synonym"
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                {
                    "name": "Leucyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "leucine tRNA ligase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "leucine tRNA ligase 2, mitocondrial",
                    "type": "synonym"
                },
                {
                    "name": "leucine translase",
                    "type": "synonym"
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                {
                    "name": "leucine--tRNA ligase, mitochondrial",
                    "type": "synonym"
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                {
                    "name": "probable leucine--tRNA ligase, mitochondrial",
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                },
                {
                    "name": "probable leucyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "LARS2",
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                {
                    "name": "HLASA",
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                },
                {
                    "name": "KIAA0028",
                    "type": "synonym"
                },
                {
                    "name": "LARS2",
                    "type": "synonym"
                },
                {
                    "name": "LEURS",
                    "type": "synonym"
                },
                {
                    "name": "PRLTS4",
                    "type": "synonym"
                },
                {
                    "name": "mtLeuRS",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "615300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615300"
                },
                {
                    "id": "0050857",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51659-1",
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            ],
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                    "name": "Peroxisomal multifunctional enzyme type 2",
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                    "name": "17-beta-HSD IV",
                    "type": "synonym"
                },
                {
                    "name": "17-beta-hydroxysteroid dehydrogenase 4",
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                },
                {
                    "name": "17beta-estradiol dehydrogenase type IV",
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                },
                {
                    "name": "3-alpha,7-alpha, 12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase",
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                },
                {
                    "name": "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase",
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                {
                    "name": "D-3-hydroxyacyl-CoA dehydratase",
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                {
                    "name": "D-bifunctional protein, peroxisomal",
                    "type": "synonym"
                },
                {
                    "name": "D-bifunctional protein",
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                    "name": "DBP",
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                    "name": "MFE-2",
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                {
                    "name": "MFP-2",
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                },
                {
                    "name": "Multifunctional protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Short chain dehydrogenase/reductase family 8C member 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-hydroxyacyl dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "beta-keto-reductase",
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                {
                    "name": "epididymis secretory sperm binding protein",
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                },
                {
                    "name": "hydroxysteroid dehydrogenase 4",
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                },
                {
                    "name": "peroxisomal multifunctional enzyme type 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal multifunctional enzyme type 2",
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                },
                {
                    "name": "peroxisomal multifunctional protein 2",
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                },
                {
                    "name": "short chain dehydrogenase/reductase family 8C member 1",
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                    "name": "HSD17B4",
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                    "name": "DBP",
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                    "name": "EDH17B4",
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                    "name": "MFP-2",
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                    "name": "MPF-2",
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                {
                    "name": "PRLTS1",
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                {
                    "name": "SDR8C1",
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                }
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                {
                    "id": "233400",
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                {
                    "id": "0050857",
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                }
            ]
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                    "name": "Leucyl-tRNA synthetase",
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                    "name": "L3502.6",
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                    "id": "0050857",
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                {
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                    "id": "0050857",
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                {
                    "name": "TSM4572",
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                {
                    "name": "YP9367.13C",
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                    "id": "0050857",
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            ],
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                    "name": "leucine--tRNA ligase, mitochondrial",
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                {
                    "name": "probable leucine--tRNA ligase, mitochondrial",
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                    "name": "probable leucyl-tRNA synthetase, mitochondrial",
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                    "name": "Lars2",
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                    "name": "Lars2",
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                    "id": "0050857",
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                    "name": "Peroxisomal multifunctional enzyme type 2",
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                {
                    "name": "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase",
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                    "name": "D-bifunctional protein",
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                    "name": "MFP-2",
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                    "name": "peroxisomal multifunctional enzyme type II",
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                {
                    "name": "Hsd17b4",
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                    "id": "0050857",
                    "database": "AGR",
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                    "name": "Twinkle mtDNA helicase",
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                    "name": "T7 gp4-like protein with intramitochondrial nucleoid localization",
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                {
                    "name": "T7-like mitochondrial DNA helicase",
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                    "name": "twinkle mtDNA helicase isoform X1",
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                    "name": "Twnk",
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                    "id": "0050857",
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            ],
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                {
                    "name": "Histidine--tRNA ligase, cytoplasmic",
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                    "name": "6.1.1.21",
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                {
                    "name": "Histidyl-tRNA synthetase",
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                {
                    "name": "dead end homolog 1",
                    "type": "synonym"
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                {
                    "name": "histidine--tRNA ligase, cytoplasmic",
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                {
                    "name": "histidyl-tRNA synthetase, cytoplasmic",
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            ],
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                    "name": "Hars1",
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                {
                    "name": "Dnd1",
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                    "name": "Hars1",
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                {
                    "name": "Hars",
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                {
                    "id": "0050857",
                    "database": "AGR",
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            ]
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        {
            "uniprot_canonical_ac": "F1M9C9-1",
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                {
                    "name": "Rattus norvegicus",
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                {
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                {
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            ],
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            ],
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                {
                    "name": "progressive external ophthalmoplegia 1 protein",
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                {
                    "name": "twinkle mtDNA helicase isoform B",
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                {
                    "name": "ATXN8",
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                {
                    "name": "C10orf2",
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                {
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                {
                    "name": "MTDPS7",
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                {
                    "name": "PEO1",
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                {
                    "name": "PEOA3",
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                {
                    "name": "PEO",
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                {
                    "name": "PRLTS5",
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                {
                    "name": "SANDO",
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                {
                    "name": "SCA8",
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                {
                    "name": "TWINL",
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                {
                    "name": "TWNK",
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            ],
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                    "id": "0050857",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050857"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050857"
}