{
    "disease_id": "DOID:0110173",
    "recommended_name": {
        "id": "DOID:0110173",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110173",
        "name": "Charcot-Marie-Tooth disease axonal type 2U",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110173",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110173",
            "name": "CMT2U",
            "description": ""
        },
        {
            "id": "DOID:0110173",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110173",
            "name": "Charcot-Marie-Tooth neuropathy type 2U",
            "description": ""
        },
        {
            "id": "DOID:0110173",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110173",
            "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2U",
            "description": ""
        },
        {
            "id": "DOID:0110173",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110173",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2U",
            "description": ""
        },
        {
            "id": "MONDO:0014566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014566",
            "name": "Charcot-Marie-Tooth disease axonal type 2U",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated."
        },
        {
            "id": "MONDO:0014566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014566",
            "name": "CMT2U",
            "description": ""
        },
        {
            "id": "MONDO:0014566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014566",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in MARS",
            "description": ""
        },
        {
            "id": "MONDO:0014566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014566",
            "name": "MARS Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014566",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014566",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2U",
            "description": ""
        },
        {
            "id": "MONDO:0014566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014566",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2U",
            "description": ""
        },
        {
            "id": "MIM:616280",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616280",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2U",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2U"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110173"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110173",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110173",
            "categories": []
        },
        {
            "id": "MONDO:0014566",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014566",
            "categories": []
        },
        {
            "id": "MIM:616280",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616280",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "A0AB32TPL0",
            "uniprot_id": "A0AB32TPL0_DANRE",
            "refseq_ac": "XP_068077760",
            "glycoprotein": "no",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
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            "protein_names": [
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                    "name": "Methionine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
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                    "name": "6.1.1.10",
                    "type": "synonym"
                },
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                    "name": "Methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase, cytoplasmic isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mars1",
                    "type": "recommended"
                },
                {
                    "name": "id:ibd5106",
                    "type": "synonym"
                },
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                    "name": "mars1",
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                },
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                    "name": "mars",
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                },
                {
                    "name": "metrs",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66122",
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                }
            ],
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                    "id": "0110173",
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                }
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        },
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            "uniprot_ac": "Q68FL6",
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                    "name": "Mus musculus",
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            ],
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                },
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                },
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                    "type": "synonym"
                },
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                    "name": "methionine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
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                    "name": "methionyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Mars1",
                    "type": "recommended"
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                {
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                },
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                },
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                    "name": "Mtrns",
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                }
            ],
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            "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",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "MetRS",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MARS1",
                    "type": "recommended"
                },
                {
                    "name": "CMT2U",
                    "type": "synonym"
                },
                {
                    "name": "ILFS2",
                    "type": "synonym"
                },
                {
                    "name": "ILLD",
                    "type": "synonym"
                },
                {
                    "name": "MARS1",
                    "type": "synonym"
                },
                {
                    "name": "MARS",
                    "type": "synonym"
                },
                {
                    "name": "METRS",
                    "type": "synonym"
                },
                {
                    "name": "MRS",
                    "type": "synonym"
                },
                {
                    "name": "MTRNS",
                    "type": "synonym"
                },
                {
                    "name": "SPG70",
                    "type": "synonym"
                },
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                    "name": "TTD9",
                    "type": "synonym"
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            ],
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            "evidence": [
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                    "url": "https://www.omim.org/entry/616280"
                },
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                    "id": "0110173",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110173"
                }
            ]
        },
        {
            "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]"
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                {
                    "name": "Methionine--tRNA ligase, cytoplasmic",
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                },
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                    "name": "MetRS",
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                    "name": "Methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase MES1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "MES1",
                    "type": "recommended"
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        },
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            "uniprot_canonical_ac": "D3Z941-1",
            "uniprot_ac": "D3Z941",
            "uniprot_id": "D3Z941_RAT",
            "refseq_ac": "",
            "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",
                    "type": "recommended"
                },
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                    "name": "Methionyl-tRNA synthetase",
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                    "name": "Mars1",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
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                    "type": "synonym"
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                    "name": "MetRS-PA",
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                {
                    "name": "Methionyl-tRNA synthetase",
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                    "name": "MetRS",
                    "type": "recommended"
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                    "name": "Dmel_CG15100",
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                    "name": "MRS",
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                    "name": "MetRS",
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                    "name": "anon-EST:Liang-2.15",
                    "type": "synonym"
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                    "name": "clone 2.15",
                    "type": "synonym"
                },
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                    "name": "dMetRS",
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                    "name": "p120",
                    "type": "synonym"
                }
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                    "id": "0110173",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110173"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110173"
}