{
    "disease_id": "DOID:0080451",
    "recommended_name": {
        "id": "DOID:0080451",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080451",
        "name": "developmental and epileptic encephalopathy 29",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080451",
            "name": "DEE29",
            "description": ""
        },
        {
            "id": "DOID:0080451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080451",
            "name": "early infantile epileptic encephalopathy 29",
            "description": ""
        },
        {
            "id": "MONDO:0014593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014593",
            "name": "developmental and epileptic encephalopathy, 29",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene."
        },
        {
            "id": "MONDO:0014593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014593",
            "name": "AARS early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014593",
            "name": "DEE29",
            "description": ""
        },
        {
            "id": "MONDO:0014593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014593",
            "name": "EIEE29",
            "description": ""
        },
        {
            "id": "MONDO:0014593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014593",
            "name": "developmental and epileptic encephalopathy 29",
            "description": ""
        },
        {
            "id": "MONDO:0014593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014593",
            "name": "early infantile epileptic encephalopathy caused by mutation in AARS",
            "description": ""
        },
        {
            "id": "MONDO:0014593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014593",
            "name": "epileptic encephalopathy, early infantile, 29",
            "description": ""
        },
        {
            "id": "MONDO:0014593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014593",
            "name": "epileptic encephalopathy, early infantile, type 29",
            "description": ""
        },
        {
            "id": "MIM:616339",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616339",
            "name": "Developmental and epileptic encephalopathy 29",
            "description": "Developmental and epileptic encephalopathy 29"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080451"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080451",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080451",
            "categories": []
        },
        {
            "id": "MONDO:0014593",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014593",
            "categories": []
        },
        {
            "id": "MIM:616339",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616339",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LVL2-1",
            "uniprot_ac": "Q1LVL2",
            "uniprot_id": "Q1LVL2_DANRE",
            "refseq_ac": "XP_005159107",
            "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": "Protein lactyltransferase AARS1",
                    "type": "synonym"
                },
                {
                    "name": "alanine--tRNA ligase, cytoplasmic isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "aars1",
                    "type": "recommended"
                },
                {
                    "name": "AARS",
                    "type": "synonym"
                },
                {
                    "name": "aars1",
                    "type": "synonym"
                },
                {
                    "name": "aars",
                    "type": "synonym"
                },
                {
                    "name": "im:7146712",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-223o1.6",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc48h07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113920",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LVL2-1",
            "evidence": [
                {
                    "id": "0080451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080451"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BGQ7-1",
            "uniprot_ac": "Q8BGQ7",
            "uniprot_id": "SYAC_MOUSE",
            "refseq_ac": "NP_666329",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--tRNA ligase, cytoplasmic",
                    "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 AARS1",
                    "type": "synonym"
                },
                {
                    "name": "Protein sticky",
                    "type": "synonym"
                },
                {
                    "name": "Sti",
                    "type": "synonym"
                },
                {
                    "name": "alaRS",
                    "type": "synonym"
                },
                {
                    "name": "alanine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "alanyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "protein lactyltransferase AARS1",
                    "type": "synonym"
                },
                {
                    "name": "protein sticky",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aars1",
                    "type": "recommended"
                },
                {
                    "name": "Aars1",
                    "type": "synonym"
                },
                {
                    "name": "Aars",
                    "type": "synonym"
                },
                {
                    "name": "sti",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BGQ7-1",
            "evidence": [
                {
                    "id": "0080451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080451"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49588-1",
            "uniprot_ac": "P49588",
            "uniprot_id": "SYAC_HUMAN",
            "refseq_ac": "NP_001596",
            "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, cytoplasmic",
                    "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 AARS1",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-42",
                    "type": "synonym"
                },
                {
                    "name": "alaRS",
                    "type": "synonym"
                },
                {
                    "name": "alanine tRNA ligase 1, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "alanine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "alanyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "protein lactyltransferase AARS1",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-42",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AARS1",
                    "type": "recommended"
                },
                {
                    "name": "AARS1",
                    "type": "synonym"
                },
                {
                    "name": "AARS",
                    "type": "synonym"
                },
                {
                    "name": "CMT2N",
                    "type": "synonym"
                },
                {
                    "name": "DEE29",
                    "type": "synonym"
                },
                {
                    "name": "EIEE29",
                    "type": "synonym"
                },
                {
                    "name": "HDLS2",
                    "type": "synonym"
                },
                {
                    "name": "TTD8",
                    "type": "synonym"
                }
            ],
            "record_id": "P49588-1",
            "evidence": [
                {
                    "id": "616339",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616339"
                },
                {
                    "id": "0080451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080451"
                }
            ]
        },
        {
            "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": "0080451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080451"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50475-1",
            "uniprot_ac": "P50475",
            "uniprot_id": "SYAC_RAT",
            "refseq_ac": "NP_001093987",
            "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, cytoplasmic",
                    "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 AARS1",
                    "type": "synonym"
                },
                {
                    "name": "alaRS",
                    "type": "synonym"
                },
                {
                    "name": "alanine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "alanyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "protein lactyltransferase AARS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aars1",
                    "type": "recommended"
                },
                {
                    "name": "Aars1",
                    "type": "synonym"
                },
                {
                    "name": "Aars",
                    "type": "synonym"
                }
            ],
            "record_id": "P50475-1",
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                {
                    "id": "0080451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080451"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLM8-1",
            "uniprot_ac": "Q9VLM8",
            "uniprot_id": "SYAC_DROME",
            "refseq_ac": "NP_523511",
            "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, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.7",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS-PA",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS",
                    "type": "synonym"
                },
                {
                    "name": "Alanyl-tRNA synthetase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Alanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "CG13391-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AlaRS",
                    "type": "recommended"
                },
                {
                    "name": "AARS",
                    "type": "synonym"
                },
                {
                    "name": "ARS",
                    "type": "synonym"
                },
                {
                    "name": "Aats-ala",
                    "type": "synonym"
                },
                {
                    "name": "AlaRS",
                    "type": "synonym"
                },
                {
                    "name": "CG13391",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13391",
                    "type": "synonym"
                },
                {
                    "name": "alaS",
                    "type": "synonym"
                },
                {
                    "name": "dAARS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLM8-1",
            "evidence": [
                {
                    "id": "0080451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080451"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080451"
}