{
    "disease_id": "DOID:0110842",
    "recommended_name": {
        "id": "DOID:0110842",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110842",
        "name": "Usher syndrome type 3B",
        "description": "An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31."
    },
    "synonyms": [
        {
            "id": "DOID:0110842",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110842",
            "name": "USH3B",
            "description": ""
        },
        {
            "id": "DOID:0110842",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110842",
            "name": "Usher syndrome type IIIB",
            "description": ""
        },
        {
            "id": "MONDO:0013788",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013788",
            "name": "Usher syndrome type 3B",
            "description": "Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene."
        },
        {
            "id": "MONDO:0013788",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013788",
            "name": "HARS Usher syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013788",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013788",
            "name": "USH3B",
            "description": ""
        },
        {
            "id": "MONDO:0013788",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013788",
            "name": "Usher syndrome caused by mutation in HARS",
            "description": ""
        },
        {
            "id": "MONDO:0013788",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013788",
            "name": "USHER syndrome, type IIIB",
            "description": ""
        },
        {
            "id": "MIM:614504",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614504",
            "name": "Usher syndrome 3B",
            "description": "Usher syndrome 3B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110842"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110842",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110842",
            "categories": []
        },
        {
            "id": "MONDO:0013788",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013788",
            "categories": []
        },
        {
            "id": "MIM:614504",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614504",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QI36-1",
            "uniprot_ac": "E9QI36",
            "uniprot_id": "HARS1_DANRE",
            "refseq_ac": "NP_001289185",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histidine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.21",
                    "type": "synonym"
                },
                {
                    "name": "histidine--tRNA ligase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "histidine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hars",
                    "type": "recommended"
                },
                {
                    "name": "hars",
                    "type": "synonym"
                },
                {
                    "name": "im:7136719",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92215",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QI36-1",
            "evidence": [
                {
                    "id": "0110842",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110842"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61035-1",
            "uniprot_ac": "Q61035",
            "uniprot_id": "HARS1_MOUSE",
            "refseq_ac": "NP_032240",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histidine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.21",
                    "type": "synonym"
                },
                {
                    "name": "HisRS",
                    "type": "synonym"
                },
                {
                    "name": "Histidyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "hisRS",
                    "type": "synonym"
                },
                {
                    "name": "histidine tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "histidine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "histidyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hars1",
                    "type": "recommended"
                },
                {
                    "name": "Hars1",
                    "type": "synonym"
                },
                {
                    "name": "Hars",
                    "type": "synonym"
                },
                {
                    "name": "MMHRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61035-1",
            "evidence": [
                {
                    "id": "0110842",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110842"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99KK9-1",
            "uniprot_ac": "Q99KK9",
            "uniprot_id": "SYHM_MOUSE",
            "refseq_ac": "NP_542367",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histidine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.21",
                    "type": "synonym"
                },
                {
                    "name": "HisRS",
                    "type": "synonym"
                },
                {
                    "name": "Histidine--tRNA ligase-like",
                    "type": "synonym"
                },
                {
                    "name": "Histidyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "hisRS",
                    "type": "synonym"
                },
                {
                    "name": "histidine--tRNA ligase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "histidyl-tRNA synthetase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "probable histidine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable histidyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hars2",
                    "type": "recommended"
                },
                {
                    "name": "4631412B19Rik",
                    "type": "synonym"
                },
                {
                    "name": "HARSR",
                    "type": "synonym"
                },
                {
                    "name": "HO3",
                    "type": "synonym"
                },
                {
                    "name": "Hars2",
                    "type": "synonym"
                },
                {
                    "name": "Harsl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99KK9-1",
            "evidence": [
                {
                    "id": "0110842",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110842"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12081-1",
            "uniprot_ac": "P12081",
            "uniprot_id": "HARS1_HUMAN",
            "refseq_ac": "NP_001244969",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histidine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.21",
                    "type": "synonym"
                },
                {
                    "name": "HisRS",
                    "type": "synonym"
                },
                {
                    "name": "Histidyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Jo-1 antigen",
                    "type": "synonym"
                },
                {
                    "name": "histidine translase",
                    "type": "synonym"
                },
                {
                    "name": "histidine--tRNA ligase, cytoplasmic isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "histidine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HARS1",
                    "type": "recommended"
                },
                {
                    "name": "CMT2W",
                    "type": "synonym"
                },
                {
                    "name": "HARS1",
                    "type": "synonym"
                },
                {
                    "name": "HARS",
                    "type": "synonym"
                },
                {
                    "name": "HRS",
                    "type": "synonym"
                },
                {
                    "name": "USH3B",
                    "type": "synonym"
                }
            ],
            "record_id": "P12081-1",
            "evidence": [
                {
                    "id": "614504",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614504"
                },
                {
                    "id": "0110842",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110842"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07263-1",
            "uniprot_ac": "P07263",
            "uniprot_id": "SYH_YEAST",
            "refseq_ac": "NP_015358",
            "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": "Histidine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.21",
                    "type": "synonym"
                },
                {
                    "name": "HisRS",
                    "type": "synonym"
                },
                {
                    "name": "Histidyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "histidine--tRNA ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HTS1",
                    "type": "recommended"
                },
                {
                    "name": "HTS1",
                    "type": "synonym"
                },
                {
                    "name": "TS4572",
                    "type": "synonym"
                },
                {
                    "name": "TSM4572",
                    "type": "synonym"
                },
                {
                    "name": "YP9367.13C",
                    "type": "synonym"
                }
            ],
            "record_id": "P07263-1",
            "evidence": [
                {
                    "id": "0110842",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110842"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8J8YFS5-1",
            "uniprot_ac": "A0A8J8YFS5",
            "uniprot_id": "A0A8J8YFS5_RAT",
            "refseq_ac": "NP_001020585",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histidine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.21",
                    "type": "synonym"
                },
                {
                    "name": "Histidyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "dead end homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "histidine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "histidyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hars1",
                    "type": "recommended"
                },
                {
                    "name": "Dnd1",
                    "type": "synonym"
                },
                {
                    "name": "Hars1",
                    "type": "synonym"
                },
                {
                    "name": "Hars",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8J8YFS5-1",
            "evidence": [
                {
                    "id": "0110842",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110842"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M9C9-1",
            "uniprot_ac": "F1M9C9",
            "uniprot_id": "F1M9C9_RAT",
            "refseq_ac": "NP_001014034",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "histidine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.21",
                    "type": "synonym"
                },
                {
                    "name": "Histidyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "histidyl-tRNA synthetase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "probable histidine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, matrin type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hars2",
                    "type": "recommended"
                },
                {
                    "name": "Zmat2",
                    "type": "recommended"
                },
                {
                    "name": "Hars2l",
                    "type": "synonym"
                },
                {
                    "name": "Hars2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308426",
                    "type": "synonym"
                },
                {
                    "name": "Zmat2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M9C9-1",
            "evidence": [
                {
                    "id": "0110842",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110842"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IQX8-1",
            "uniprot_ac": "Q8IQX8",
            "uniprot_id": "Q8IQX8_DROME",
            "refseq_ac": "NP_573305",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "histidine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.21",
                    "type": "synonym"
                },
                {
                    "name": "CG6335-PD",
                    "type": "synonym"
                },
                {
                    "name": "HisRS-PD",
                    "type": "synonym"
                },
                {
                    "name": "Histidyl-tRNA synthetase, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "hars",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HisRS",
                    "type": "recommended"
                },
                {
                    "name": "Aats-his",
                    "type": "synonym"
                },
                {
                    "name": "CG6335",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6335",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6335",
                    "type": "synonym"
                },
                {
                    "name": "HRS",
                    "type": "synonym"
                },
                {
                    "name": "Harsl",
                    "type": "synonym"
                },
                {
                    "name": "HisRS",
                    "type": "synonym"
                },
                {
                    "name": "dHARS",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0165",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0358",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IQX8-1",
            "evidence": [
                {
                    "id": "0110842",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110842"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49590-1",
            "uniprot_ac": "P49590",
            "uniprot_id": "SYHM_HUMAN",
            "refseq_ac": "NP_001265660",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histidine--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.21",
                    "type": "synonym"
                },
                {
                    "name": "HARS-related",
                    "type": "synonym"
                },
                {
                    "name": "HisRS",
                    "type": "synonym"
                },
                {
                    "name": "Histidine--tRNA ligase-like",
                    "type": "synonym"
                },
                {
                    "name": "Histidyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "histidine tRNA ligase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "histidine translase",
                    "type": "synonym"
                },
                {
                    "name": "histidine--tRNA ligase, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "histidine-tRNA ligase homolog",
                    "type": "synonym"
                },
                {
                    "name": "histidyl-tRNA synthetase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "histidyl-tRNA synthetase 2, mitochondrial, hisRS",
                    "type": "synonym"
                },
                {
                    "name": "probable histidine--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable histidyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HARS2",
                    "type": "recommended"
                },
                {
                    "name": "HARS2",
                    "type": "synonym"
                },
                {
                    "name": "HARSL",
                    "type": "synonym"
                },
                {
                    "name": "HARSR",
                    "type": "synonym"
                },
                {
                    "name": "HO3",
                    "type": "synonym"
                },
                {
                    "name": "HisRS",
                    "type": "synonym"
                },
                {
                    "name": "PRLTS2",
                    "type": "synonym"
                }
            ],
            "record_id": "P49590-1",
            "evidence": [
                {
                    "id": "0110842",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110842"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110842"
}