{
    "disease_id": "DOID:0110199",
    "recommended_name": {
        "id": "DOID:0110199",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110199",
        "name": "Charcot-Marie-Tooth disease dominant intermediate C",
        "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35."
    },
    "synonyms": [
        {
            "id": "DOID:0110199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110199",
            "name": "CMTDIC",
            "description": ""
        },
        {
            "id": "DOID:0110199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110199",
            "name": "DI-CMTC",
            "description": ""
        },
        {
            "id": "DOID:0110199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110199",
            "name": "Charcot-Marie-Tooth neuropathy dominant intermediate C",
            "description": ""
        },
        {
            "id": "DOID:0110199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110199",
            "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type C",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "Charcot-Marie-Tooth disease dominant intermediate C",
            "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs."
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "CMTDIC",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "Charcot-Marie-Tooth disease caused by mutation in YARS",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "Charcot-Marie-Tooth disease dominant intermediate type C",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "Charcot-Marie-Tooth disease, dominant Intermediate type C",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "DI-CMTC",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "YARS Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type C",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate C",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "YARS-related intermediate Charcot-Marie-Tooth neuropathy",
            "description": ""
        },
        {
            "id": "MIM:608323",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608323",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate C",
            "description": "Charcot-Marie-Tooth disease, dominant intermediate C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110199"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110199",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110199",
            "categories": []
        },
        {
            "id": "MONDO:0012012",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "categories": []
        },
        {
            "id": "MIM:608323",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608323",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6TGS6-1",
            "uniprot_ac": "Q6TGS6",
            "uniprot_id": "SYYC_DANRE",
            "refseq_ac": "NP_958473",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "TyrRS",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "tyrRS",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl--tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "yars1",
                    "type": "recommended"
                },
                {
                    "name": "cb204",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk52b08",
                    "type": "synonym"
                },
                {
                    "name": "yars1",
                    "type": "synonym"
                },
                {
                    "name": "yars",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6TGS6-1",
            "evidence": [
                {
                    "id": "0110199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110199"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91WQ3-1",
            "uniprot_ac": "Q91WQ3",
            "uniprot_id": "SYYC_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "TyrRS",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Yars1",
                    "type": "recommended"
                },
                {
                    "name": "Yars",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91WQ3-1",
            "evidence": [
                {
                    "id": "0110199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110199"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54577-1",
            "uniprot_ac": "P54577",
            "uniprot_id": "SYYC_HUMAN",
            "refseq_ac": "NP_003671",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "TyrRS",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine tRNA ligase 1, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl--tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YARS1",
                    "type": "recommended"
                },
                {
                    "name": "CMTDIC",
                    "type": "synonym"
                },
                {
                    "name": "IMNEPD2",
                    "type": "synonym"
                },
                {
                    "name": "TYRRS",
                    "type": "synonym"
                },
                {
                    "name": "YARS1",
                    "type": "synonym"
                },
                {
                    "name": "YARS",
                    "type": "synonym"
                },
                {
                    "name": "YRS",
                    "type": "synonym"
                },
                {
                    "name": "YTS",
                    "type": "synonym"
                }
            ],
            "record_id": "P54577-1",
            "evidence": [
                {
                    "id": "608323",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608323"
                },
                {
                    "id": "0110199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110199"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36421-1",
            "uniprot_ac": "P36421",
            "uniprot_id": "SYYC_YEAST",
            "refseq_ac": "NP_011701",
            "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": "Tyrosine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "TyrRS",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine--tRNA ligase TYS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TYS1",
                    "type": "recommended"
                },
                {
                    "name": "G7522",
                    "type": "synonym"
                },
                {
                    "name": "MGM104",
                    "type": "synonym"
                },
                {
                    "name": "TTS1",
                    "type": "synonym"
                },
                {
                    "name": "TYS1",
                    "type": "synonym"
                }
            ],
            "record_id": "P36421-1",
            "evidence": [
                {
                    "id": "0110199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110199"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KM49-1",
            "uniprot_ac": "Q4KM49",
            "uniprot_id": "SYYC_RAT",
            "refseq_ac": "NP_001020867",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "TyrRS",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "tyrRS",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl--tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Yars1",
                    "type": "recommended"
                },
                {
                    "name": "Yars1",
                    "type": "synonym"
                },
                {
                    "name": "Yars",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KM49-1",
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                {
                    "id": "0110199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110199"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VV60-1",
            "uniprot_ac": "Q9VV60",
            "uniprot_id": "Q9VV60_DROME",
            "refseq_ac": "NP_648895",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CG4561-PA",
                    "type": "synonym"
                },
                {
                    "name": "TyrRS-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "yars",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TyrRS",
                    "type": "recommended"
                },
                {
                    "name": "Aats-tyr",
                    "type": "synonym"
                },
                {
                    "name": "CG4561",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4561",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4561",
                    "type": "synonym"
                },
                {
                    "name": "EMAP",
                    "type": "synonym"
                },
                {
                    "name": "TyrRS",
                    "type": "synonym"
                },
                {
                    "name": "YARS",
                    "type": "synonym"
                },
                {
                    "name": "YRS",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey261",
                    "type": "synonym"
                },
                {
                    "name": "dTyrRS",
                    "type": "synonym"
                },
                {
                    "name": "dYARS1",
                    "type": "synonym"
                },
                {
                    "name": "dYARS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VV60-1",
            "evidence": [
                {
                    "id": "0110199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110199"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110199"
}