{
    "disease_id": "DOID:0110534",
    "recommended_name": {
        "id": "DOID:0110534",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110534",
        "name": "autosomal recessive nonsyndromic deafness 89",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110534",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110534",
            "name": "DFNB89",
            "description": ""
        },
        {
            "id": "DOID:0110534",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110534",
            "name": "autosomal recessive deafness 89",
            "description": ""
        },
        {
            "id": "MONDO:0013489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013489",
            "name": "autosomal recessive nonsyndromic hearing loss 89",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene."
        },
        {
            "id": "MONDO:0013489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013489",
            "name": "autosomal recessive nonsyndromic hearing loss 89",
            "description": ""
        },
        {
            "id": "MONDO:0013489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013489",
            "name": "DFNB89",
            "description": ""
        },
        {
            "id": "MONDO:0013489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013489",
            "name": "KARS autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013489",
            "name": "autosomal recessive deafness 89",
            "description": ""
        },
        {
            "id": "MONDO:0013489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013489",
            "name": "autosomal recessive nonsyndromic deafness 89",
            "description": ""
        },
        {
            "id": "MONDO:0013489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013489",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in KARS",
            "description": ""
        },
        {
            "id": "MONDO:0013489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013489",
            "name": "autosomal recessive nonsyndromic deafness type 89",
            "description": ""
        },
        {
            "id": "MONDO:0013489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013489",
            "name": "deafness, autosomal recessive 89",
            "description": ""
        },
        {
            "id": "MONDO:0013489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013489",
            "name": "deafness, autosomal recessive type 89",
            "description": ""
        },
        {
            "id": "MIM:613916",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613916",
            "name": "Deafness, autosomal recessive, 89",
            "description": "Deafness, autosomal recessive, 89"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110534"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110534",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110534",
            "categories": []
        },
        {
            "id": "MONDO:0013489",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013489",
            "categories": []
        },
        {
            "id": "MIM:613916",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613916",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99MN1-1",
            "uniprot_ac": "Q99MN1",
            "uniprot_id": "SYK_MOUSE",
            "refseq_ac": "NP_444322",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.-",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.6",
                    "type": "synonym"
                },
                {
                    "name": "LysRS",
                    "type": "synonym"
                },
                {
                    "name": "Lysyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "lysine--tRNA ligase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "lysine--tRNA ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kars1",
                    "type": "recommended"
                },
                {
                    "name": "D8Ertd698e",
                    "type": "synonym"
                },
                {
                    "name": "D8Wsu108e",
                    "type": "synonym"
                },
                {
                    "name": "Kars1",
                    "type": "synonym"
                },
                {
                    "name": "Kars",
                    "type": "synonym"
                },
                {
                    "name": "LysRS",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0070",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99MN1-1",
            "evidence": [
                {
                    "id": "0110534",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110534"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15046-1",
            "uniprot_ac": "Q15046",
            "uniprot_id": "SYK_HUMAN",
            "refseq_ac": "NP_001123561",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.-",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.6",
                    "type": "synonym"
                },
                {
                    "name": "LysRS",
                    "type": "synonym"
                },
                {
                    "name": "Lysyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "lysRS",
                    "type": "synonym"
                },
                {
                    "name": "lysine tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "lysine--tRNA ligase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KARS1",
                    "type": "recommended"
                },
                {
                    "name": "CMTRIB",
                    "type": "synonym"
                },
                {
                    "name": "DEAPLE",
                    "type": "synonym"
                },
                {
                    "name": "DFNB89",
                    "type": "synonym"
                },
                {
                    "name": "KARS1",
                    "type": "synonym"
                },
                {
                    "name": "KARS2",
                    "type": "synonym"
                },
                {
                    "name": "KARS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0070",
                    "type": "synonym"
                },
                {
                    "name": "KRS",
                    "type": "synonym"
                },
                {
                    "name": "LEPID",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15046-1",
            "evidence": [
                {
                    "id": "613916",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613916"
                },
                {
                    "id": "0110534",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110534"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15180-1",
            "uniprot_ac": "P15180",
            "uniprot_id": "SYKC_YEAST",
            "refseq_ac": "NP_010322",
            "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": "Lysine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.6",
                    "type": "synonym"
                },
                {
                    "name": "LysRS",
                    "type": "synonym"
                },
                {
                    "name": "Lysyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "lysine--tRNA ligase KRS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRS1",
                    "type": "recommended"
                },
                {
                    "name": "GCD5",
                    "type": "synonym"
                },
                {
                    "name": "KRS1",
                    "type": "synonym"
                },
                {
                    "name": "YD9673.09",
                    "type": "synonym"
                }
            ],
            "record_id": "P15180-1",
            "evidence": [
                {
                    "id": "0110534",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110534"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIM7-1",
            "uniprot_ac": "Q5XIM7",
            "uniprot_id": "SYK_RAT",
            "refseq_ac": "NP_001006968",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.-",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.6",
                    "type": "synonym"
                },
                {
                    "name": "LysRS",
                    "type": "synonym"
                },
                {
                    "name": "Lysyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "lysine--tRNA ligase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "lysine--tRNA ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kars1",
                    "type": "recommended"
                },
                {
                    "name": "Kars1",
                    "type": "synonym"
                },
                {
                    "name": "Kars",
                    "type": "synonym"
                },
                {
                    "name": "LysRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIM7-1",
            "evidence": [
                {
                    "id": "0110534",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110534"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W327-1",
            "uniprot_ac": "Q9W327",
            "uniprot_id": "Q9W327_DROME",
            "refseq_ac": "NP_001188571",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.6",
                    "type": "synonym"
                },
                {
                    "name": "CG12141-PC",
                    "type": "synonym"
                },
                {
                    "name": "LysRS-PC",
                    "type": "synonym"
                },
                {
                    "name": "Lysyl-tRNA synthetase, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Lysyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "kars",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LysRS",
                    "type": "recommended"
                },
                {
                    "name": "Aats-lys",
                    "type": "synonym"
                },
                {
                    "name": "CG12141",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12141",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12141",
                    "type": "synonym"
                },
                {
                    "name": "KRS",
                    "type": "synonym"
                },
                {
                    "name": "LysRS",
                    "type": "synonym"
                },
                {
                    "name": "dKARS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W327-1",
            "evidence": [
                {
                    "id": "0110534",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110534"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110534"
}