{
    "disease_id": "DOID:0061024",
    "recommended_name": {
        "id": "DOID:0061024",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0061024",
        "name": "nonphotosensitive trichothiodystrophy 9",
        "description": "A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in homozygous mutation in the MARS1 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0061024",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061024",
            "name": "TTD9",
            "description": ""
        },
        {
            "id": "MONDO:0030518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030518",
            "name": "trichothiodystrophy 9, nonphotosensitive",
            "description": ""
        },
        {
            "id": "MONDO:0030518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030518",
            "name": "TTD9",
            "description": ""
        },
        {
            "id": "MIM:619692",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619692",
            "name": "Trichothiodystrophy 9, non-photosensitive",
            "description": "Trichothiodystrophy 9, non-photosensitive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061024"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061024",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061024",
            "categories": []
        },
        {
            "id": "MONDO:0030518",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030518",
            "categories": []
        },
        {
            "id": "MIM:619692",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619692",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TPL0-1",
            "uniprot_ac": "A0AB32TPL0",
            "uniprot_id": "A0AB32TPL0_DANRE",
            "refseq_ac": "XP_068077760",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine--tRNA ligase, cytoplasmic",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase, cytoplasmic isoform X1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mars1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "id:ibd5106",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd5106",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "mars1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "mars",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "mars",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "metrs",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "metrs",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66122",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66122",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0061024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZBE9-1",
            "uniprot_ac": "A1ZBE9",
            "uniprot_id": "A1ZBE9_DROME",
            "refseq_ac": "NP_611382",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine--tRNA ligase, cytoplasmic",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG15100-PA",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MetRS-PA",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MetRS",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG15100",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG15100",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15100",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15100",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15100",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MRS",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MRS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MetRS",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-2.15",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-2.15",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "clone 2.15",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "clone 2.15",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dMetRS",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "dMetRS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "p120",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "p120",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0061024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z941-1",
            "uniprot_ac": "D3Z941",
            "uniprot_id": "D3Z941_RAT",
            "refseq_ac": "NP_001121131",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine--tRNA ligase, cytoplasmic",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase, cytoplasmic",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "methionine-tRNA synthetase",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mars1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Mars1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Mars",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Mars",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0061024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56192-1",
            "uniprot_ac": "P56192",
            "uniprot_id": "SYMC_HUMAN",
            "refseq_ac": "NP_004981",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine--tRNA ligase, cytoplasmic",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MetRS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic methionyl-tRNA synthetase",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase, cytoplasmic",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MARS1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CMT2U",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ILFS2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ILLD",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MARS1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MARS",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MARS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "METRS",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MRS",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MTRNS",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SPG70",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "TTD9",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0061024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061024"
                },
                {
                    "id": "619692",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619692"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00958-1",
            "uniprot_ac": "P00958",
            "uniprot_id": "SYMC_YEAST",
            "refseq_ac": "NP_011780",
            "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": "Methionine--tRNA ligase, cytoplasmic",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MetRS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase MES1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MES1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "MES1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0061024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68FL6-1",
            "uniprot_ac": "Q68FL6",
            "uniprot_id": "SYMC_MOUSE",
            "refseq_ac": "NP_001003913",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine--tRNA ligase, cytoplasmic",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MetRS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "methionine tRNA ligase",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase, cytoplasmic isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase, cytoplasmic",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "methionyl-tRNA synthetase, cytoplasmic",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mars1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Mars1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Mars",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Mars",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Metrs",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Mtrns",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0061024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061024"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061024"
}