{
    "disease_id": "DOID:0070396",
    "recommended_name": {
        "id": "DOID:0070396",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070396",
        "name": "progressive leukoencephalopathy with ovarian failure",
        "description": "An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0014387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014387",
            "name": "leukoencephalopathy, progressive, with ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0014387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014387",
            "name": "leukoencephalopathy, progressive, with ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0014387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014387",
            "name": "LKENP",
            "description": ""
        },
        {
            "id": "MIM:615889",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615889",
            "name": "Leukoencephalopathy, progressive, with ovarian failure",
            "description": "Leukoencephalopathy, progressive, with ovarian failure"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070396"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070396",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070396",
            "categories": []
        },
        {
            "id": "MONDO:0014387",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014387",
            "categories": []
        },
        {
            "id": "MIM:615889",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615889",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1Q6V5-1",
            "uniprot_ac": "A0A8M1Q6V5",
            "uniprot_id": "A0A8M1Q6V5_DANRE",
            "refseq_ac": "XP_001332388",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.7",
                    "type": "synonym"
                },
                {
                    "name": "alanine--tRNA ligase, mitochondrial isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC100536819",
                    "type": "recommended"
                },
                {
                    "name": "aars2",
                    "type": "recommended"
                },
                {
                    "name": "AARS",
                    "type": "synonym"
                },
                {
                    "name": "aars2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1Q6V5-1",
            "evidence": [
                {
                    "id": "0070396",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070396"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14CH7-1",
            "uniprot_ac": "Q14CH7",
            "uniprot_id": "SYAM_MOUSE",
            "refseq_ac": "NP_941010",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.7",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS",
                    "type": "synonym"
                },
                {
                    "name": "Alanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Protein lactyltransferase AARS2",
                    "type": "synonym"
                },
                {
                    "name": "alanine--tRNA ligase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "alanine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "alanyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "protein lactyltransferase AARS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aars2",
                    "type": "recommended"
                },
                {
                    "name": "Aars2",
                    "type": "synonym"
                },
                {
                    "name": "Aarsl",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS",
                    "type": "synonym"
                },
                {
                    "name": "Gm89",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1270",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14CH7-1",
            "evidence": [
                {
                    "id": "0070396",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070396"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5JTZ9-1",
            "uniprot_ac": "Q5JTZ9",
            "uniprot_id": "SYAM_HUMAN",
            "refseq_ac": "NP_065796",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.7",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS",
                    "type": "synonym"
                },
                {
                    "name": "Alanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Protein lactyltransferase AARS2",
                    "type": "synonym"
                },
                {
                    "name": "alanine tRNA ligase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "alanine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "alanyl-tRNA synthetase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "alanyl-tRNA synthetase like",
                    "type": "synonym"
                },
                {
                    "name": "probable alanyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "protein lactyltransferase AARS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AARS2",
                    "type": "recommended"
                },
                {
                    "name": "AARS2",
                    "type": "synonym"
                },
                {
                    "name": "AARSL",
                    "type": "synonym"
                },
                {
                    "name": "COXPD8",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1270",
                    "type": "synonym"
                },
                {
                    "name": "LKENP",
                    "type": "synonym"
                },
                {
                    "name": "MT-ALARS",
                    "type": "synonym"
                },
                {
                    "name": "MTALARS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5JTZ9-1",
            "evidence": [
                {
                    "id": "615889",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615889"
                },
                {
                    "id": "0070396",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070396"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40825-1",
            "uniprot_ac": "P40825",
            "uniprot_id": "SYA_YEAST",
            "refseq_ac": "NP_014980",
            "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": "Alanine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.7",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS",
                    "type": "synonym"
                },
                {
                    "name": "Alanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "alanine--tRNA ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALA1",
                    "type": "recommended"
                },
                {
                    "name": "ALA1",
                    "type": "synonym"
                },
                {
                    "name": "CDC64",
                    "type": "synonym"
                }
            ],
            "record_id": "P40825-1",
            "evidence": [
                {
                    "id": "0070396",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070396"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZX08-1",
            "uniprot_ac": "D3ZX08",
            "uniprot_id": "SYAM_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.7",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS",
                    "type": "synonym"
                },
                {
                    "name": "Alanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Protein lactyltransferase AARS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aars2",
                    "type": "recommended"
                },
                {
                    "name": "AARS",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZX08-1",
            "evidence": [
                {
                    "id": "0070396",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070396"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRJ1-1",
            "uniprot_ac": "Q9VRJ1",
            "uniprot_id": "SYAM_DROME",
            "refseq_ac": "NP_523932",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.7",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS-m-PA",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS",
                    "type": "synonym"
                },
                {
                    "name": "Alanyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Alanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "CG4633-PA",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial alanyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AlaRS-m",
                    "type": "recommended"
                },
                {
                    "name": "Aats-ala-m",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS-m",
                    "type": "synonym"
                },
                {
                    "name": "AlaS",
                    "type": "synonym"
                },
                {
                    "name": "CG4633",
                    "type": "synonym"
                },
                {
                    "name": "Dm mt AlaRS",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4633",
                    "type": "synonym"
                },
                {
                    "name": "alaS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRJ1-1",
            "evidence": [
                {
                    "id": "0070396",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070396"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070396"
}