{
    "disease_id": "DOID:0070398",
    "recommended_name": {
        "id": "DOID:0070398",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070398",
        "name": "hypomyelinating leukodystrophy 15",
        "description": "A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41."
    },
    "synonyms": [
        {
            "id": "DOID:0070398",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070398",
            "name": "HLD15",
            "description": ""
        },
        {
            "id": "MONDO:0054782",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054782",
            "name": "leukodystrophy, hypomyelinating, 15",
            "description": ""
        },
        {
            "id": "MONDO:0054782",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054782",
            "name": "leukodystrophy, hypomyelinating, 15",
            "description": ""
        },
        {
            "id": "MONDO:0054782",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054782",
            "name": "HLD15",
            "description": ""
        },
        {
            "id": "MIM:617951",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617951",
            "name": "Leukodystrophy, hypomyelinating, 15",
            "description": "Leukodystrophy, hypomyelinating, 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070398"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070398",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070398",
            "categories": []
        },
        {
            "id": "MONDO:0054782",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054782",
            "categories": []
        },
        {
            "id": "MIM:617951",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617951",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "A0A8M3ARK1",
            "uniprot_id": "A0A8M3ARK1_DANRE",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
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                }
            ],
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                    "name": "Bifunctional glutamate/proline--tRNA ligase",
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                    "name": "6.1.1.15",
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                    "type": "synonym"
                },
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                },
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                }
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                    "name": "eprs1",
                    "type": "recommended"
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                    "name": "eprs1",
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                    "name": "eprs",
                    "type": "synonym"
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                },
                {
                    "name": "wu:fb38d08",
                    "type": "synonym"
                },
                {
                    "name": "wu:ft34d10",
                    "type": "synonym"
                }
            ],
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                    "id": "0070398",
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                }
            ]
        },
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
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                }
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                    "name": "Glutamyl-tRNA synthetase",
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                    "name": "bifunctional glutamate/proline--tRNA ligase",
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                    "name": "2410081F06Rik",
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                {
                    "name": "3010002K18Rik",
                    "type": "synonym"
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                    "name": "Eprs1",
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        },
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                {
                    "name": "Homo sapiens",
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                }
            ],
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                {
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                    "name": "Bifunctional aminoacyl-tRNA synthetase",
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                },
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                    "name": "GluRS",
                    "type": "synonym"
                },
                {
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                },
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                    "name": "Glutamyl-tRNA synthetase",
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                    "name": "glutamate tRNA ligase",
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                },
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                {
                    "name": "proliferation-inducing gene 32 protein",
                    "type": "synonym"
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                    "name": "proliferation-inducing protein 32",
                    "type": "synonym"
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                    "name": "proline-tRNA ligase",
                    "type": "synonym"
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                }
            ],
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                    "name": "EPRS1",
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                    "name": "EARS",
                    "type": "synonym"
                },
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                    "name": "EPRS1",
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                },
                {
                    "name": "EPRS",
                    "type": "synonym"
                },
                {
                    "name": "GLNS",
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                },
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                    "name": "GLUPRORS",
                    "type": "synonym"
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                    "name": "HLD15",
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                    "name": "PARS",
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                    "name": "PIG32",
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                {
                    "name": "QPRS",
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            ],
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                    "id": "0070398",
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                    "taxid": 559292,
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                }
            ],
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                    "name": "Glutamate--tRNA ligase, cytoplasmic",
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                    "id": "0070398",
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                }
            ]
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070398"
}