{
    "disease_id": "DOID:0060791",
    "recommended_name": {
        "id": "DOID:0060791",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060791",
        "name": "hypomyelinating leukodystrophy 9",
        "description": "A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34."
    },
    "synonyms": [
        {
            "id": "DOID:0060791",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060791",
            "name": "HLD9",
            "description": ""
        },
        {
            "id": "DOID:0060791",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060791",
            "name": "RARS-related autosomal recessive hypomyelinating leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014506",
            "name": "hypomyelinating leukodystrophy 9",
            "description": "Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene."
        },
        {
            "id": "MONDO:0014506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014506",
            "name": "HLD9",
            "description": ""
        },
        {
            "id": "MONDO:0014506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014506",
            "name": "RARS leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014506",
            "name": "RARS-related autosomal recessive hypomyelinating leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014506",
            "name": "hypomyelinating leukodystrophy type 9",
            "description": ""
        },
        {
            "id": "MONDO:0014506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014506",
            "name": "leukodystrophy caused by mutation in RARS",
            "description": ""
        },
        {
            "id": "MONDO:0014506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014506",
            "name": "leukodystrophy, hypomyelinating, type 9",
            "description": ""
        },
        {
            "id": "MONDO:0014506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014506",
            "name": "leukodystrophy, hypomyelinating, 9",
            "description": ""
        },
        {
            "id": "MIM:616140",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616140",
            "name": "Leukodystrophy, hypomyelinating, 9",
            "description": "Leukodystrophy, hypomyelinating, 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060791"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060791",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060791",
            "categories": []
        },
        {
            "id": "MONDO:0014506",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014506",
            "categories": []
        },
        {
            "id": "MIM:616140",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616140",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D0I9-1",
            "uniprot_ac": "Q9D0I9",
            "uniprot_id": "SYRC_MOUSE",
            "refseq_ac": "NP_080212",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arginine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.19",
                    "type": "synonym"
                },
                {
                    "name": "ArgRS",
                    "type": "synonym"
                },
                {
                    "name": "Arginyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "argRS",
                    "type": "synonym"
                },
                {
                    "name": "arginine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "arginyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rars1",
                    "type": "recommended"
                },
                {
                    "name": "2610011N19Rik",
                    "type": "synonym"
                },
                {
                    "name": "2610037E21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rars1",
                    "type": "synonym"
                },
                {
                    "name": "Rars",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D0I9-1",
            "evidence": [
                {
                    "id": "0060791",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060791"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54136-1",
            "uniprot_ac": "P54136",
            "uniprot_id": "SYRC_HUMAN",
            "refseq_ac": "NP_002878",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arginine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.19",
                    "type": "synonym"
                },
                {
                    "name": "ArgRS",
                    "type": "synonym"
                },
                {
                    "name": "Arginyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "arginine tRNA ligase 1, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "arginine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "arginyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RARS1",
                    "type": "recommended"
                },
                {
                    "name": "ArgRS",
                    "type": "synonym"
                },
                {
                    "name": "DALRD1",
                    "type": "synonym"
                },
                {
                    "name": "HLD9",
                    "type": "synonym"
                },
                {
                    "name": "RARS1",
                    "type": "synonym"
                },
                {
                    "name": "RARS",
                    "type": "synonym"
                }
            ],
            "record_id": "P54136-1",
            "evidence": [
                {
                    "id": "616140",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616140"
                },
                {
                    "id": "0060791",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060791"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40329-1",
            "uniprot_ac": "P40329",
            "uniprot_id": "SYRC_RAT",
            "refseq_ac": "NP_001099247",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arginine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.19",
                    "type": "synonym"
                },
                {
                    "name": "ArgRS",
                    "type": "synonym"
                },
                {
                    "name": "Arginyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "argRS",
                    "type": "synonym"
                },
                {
                    "name": "arginine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "arginyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rars1",
                    "type": "recommended"
                },
                {
                    "name": "Rars1",
                    "type": "synonym"
                },
                {
                    "name": "Rars",
                    "type": "synonym"
                }
            ],
            "record_id": "P40329-1",
            "evidence": [
                {
                    "id": "0060791",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060791"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXN4-1",
            "uniprot_ac": "Q9VXN4",
            "uniprot_id": "SYRC_DROME",
            "refseq_ac": "NP_573081",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable arginine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.19",
                    "type": "synonym"
                },
                {
                    "name": "ArgRS-PA",
                    "type": "synonym"
                },
                {
                    "name": "Arginyl-tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "Arginyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "CG9020-PA",
                    "type": "synonym"
                },
                {
                    "name": "arginyl tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ArgRS",
                    "type": "recommended"
                },
                {
                    "name": "Aats-arg",
                    "type": "synonym"
                },
                {
                    "name": "ArgRS",
                    "type": "synonym"
                },
                {
                    "name": "CG9020",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9020",
                    "type": "synonym"
                },
                {
                    "name": "RRS",
                    "type": "synonym"
                },
                {
                    "name": "dRARS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXN4-1",
            "evidence": [
                {
                    "id": "0060791",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060791"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060791"
}