{
    "disease_id": "DOID:0111870",
    "recommended_name": {
        "id": "DOID:0111870",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111870",
        "name": "nonphotosensitive trichothiodystrophy 7",
        "description": "A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111870",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111870",
            "name": "TTD7",
            "description": ""
        },
        {
            "id": "MONDO:0032806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032806",
            "name": "trichothiodystrophy 7, nonphotosensitive",
            "description": ""
        },
        {
            "id": "MONDO:0032806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032806",
            "name": "TTD7",
            "description": ""
        },
        {
            "id": "MIM:618546",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618546",
            "name": "Trichothiodystrophy 7, non-photosensitive",
            "description": "Trichothiodystrophy 7, non-photosensitive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111870"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111870",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111870",
            "categories": []
        },
        {
            "id": "MONDO:0032806",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032806",
            "categories": []
        },
        {
            "id": "MIM:618546",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618546",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D0R2-1",
            "uniprot_ac": "Q9D0R2",
            "uniprot_id": "SYTC_MOUSE",
            "refseq_ac": "NP_149065",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Threonine--tRNA ligase 1, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "ThrRS",
                    "type": "synonym"
                },
                {
                    "name": "Threonine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "threonine--tRNA ligase 1, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "threonine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "threonyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tars1",
                    "type": "recommended"
                },
                {
                    "name": "D15Wsu59e",
                    "type": "synonym"
                },
                {
                    "name": "Tars1",
                    "type": "synonym"
                },
                {
                    "name": "Tars",
                    "type": "synonym"
                },
                {
                    "name": "ThrRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D0R2-1",
            "evidence": [
                {
                    "id": "0111870",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111870"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26639-1",
            "uniprot_ac": "P26639",
            "uniprot_id": "SYTC_HUMAN",
            "refseq_ac": "NP_001245366",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Threonine--tRNA ligase 1, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "ThrRS",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "threonine tRNA ligase 1, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "threonine--tRNA ligase 1, cytoplasmic isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "threonine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "threonyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TARS1",
                    "type": "recommended"
                },
                {
                    "name": "TARS1",
                    "type": "synonym"
                },
                {
                    "name": "TARS",
                    "type": "synonym"
                },
                {
                    "name": "TTD7",
                    "type": "synonym"
                },
                {
                    "name": "ThrRS",
                    "type": "synonym"
                }
            ],
            "record_id": "P26639-1",
            "evidence": [
                {
                    "id": "618546",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618546"
                },
                {
                    "id": "0111870",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111870"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04801-1",
            "uniprot_ac": "P04801",
            "uniprot_id": "SYTC_YEAST",
            "refseq_ac": "NP_116578",
            "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": "Threonine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "ThrRS",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "threonine--tRNA ligase THS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "THS1",
                    "type": "recommended"
                },
                {
                    "name": "THS1",
                    "type": "synonym"
                }
            ],
            "record_id": "P04801-1",
            "evidence": [
                {
                    "id": "0111870",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111870"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XHY5-1",
            "uniprot_ac": "Q5XHY5",
            "uniprot_id": "SYTC_RAT",
            "refseq_ac": "NP_001006977",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Threonine--tRNA ligase 1, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "ThrRS",
                    "type": "synonym"
                },
                {
                    "name": "Threonine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "thrRS",
                    "type": "synonym"
                },
                {
                    "name": "threonine--tRNA ligase 1, cytoplasmic isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "threonine--tRNA ligase 1, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "threonine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "threonyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tars1",
                    "type": "recommended"
                },
                {
                    "name": "Tars1",
                    "type": "synonym"
                },
                {
                    "name": "Tars",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XHY5-1",
            "evidence": [
                {
                    "id": "0111870",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111870"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKB0-1",
            "uniprot_ac": "Q9VKB0",
            "uniprot_id": "Q9VKB0_DROME",
            "refseq_ac": "NP_001285868",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "threonine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "CG5353-PD",
                    "type": "synonym"
                },
                {
                    "name": "ThrRS-PD",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "threonyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ThrRS",
                    "type": "recommended"
                },
                {
                    "name": "2L16",
                    "type": "synonym"
                },
                {
                    "name": "3",
                    "type": "synonym"
                },
                {
                    "name": "42/3",
                    "type": "synonym"
                },
                {
                    "name": "Aats-thr",
                    "type": "synonym"
                },
                {
                    "name": "CG5353",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5353",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5353",
                    "type": "synonym"
                },
                {
                    "name": "P539",
                    "type": "synonym"
                },
                {
                    "name": "TARS",
                    "type": "synonym"
                },
                {
                    "name": "TRS",
                    "type": "synonym"
                },
                {
                    "name": "ThrRS",
                    "type": "synonym"
                },
                {
                    "name": "dTARS",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k04203",
                    "type": "synonym"
                },
                {
                    "name": "threonyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKB0-1",
            "evidence": [
                {
                    "id": "0111870",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111870"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111870"
}