{
    "disease_id": "DOID:0110175",
    "recommended_name": {
        "id": "DOID:0110175",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110175",
        "name": "Charcot-Marie-Tooth disease axonal type 2O",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110175",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110175",
            "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2O",
            "description": ""
        },
        {
            "id": "DOID:0110175",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110175",
            "name": "Charcot-Marie-Tooth neuropathy axonal type 2O",
            "description": ""
        },
        {
            "id": "DOID:0110175",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110175",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2O",
            "description": ""
        },
        {
            "id": "MONDO:0013644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013644",
            "name": "Charcot-Marie-Tooth disease axonal type 2O",
            "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene."
        },
        {
            "id": "MONDO:0013644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013644",
            "name": "CMT2O",
            "description": ""
        },
        {
            "id": "MONDO:0013644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013644",
            "name": "Charcot-Marie-Tooth disease caused by mutation in DYNC1H1",
            "description": ""
        },
        {
            "id": "MONDO:0013644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013644",
            "name": "Charcot-Marie-Tooth disease, axonal, type 20",
            "description": ""
        },
        {
            "id": "MONDO:0013644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013644",
            "name": "DYNC1H1 Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0013644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013644",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2O",
            "description": ""
        },
        {
            "id": "MONDO:0013644",
            "resource": "MONDO",
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            "name": "Charcot-Marie-Tooth disease type 2O",
            "description": ""
        },
        {
            "id": "MONDO:0013644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013644",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2O",
            "description": ""
        },
        {
            "id": "MIM:614228",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614228",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2O",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2O"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110175"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110175",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110175",
            "categories": []
        },
        {
            "id": "MONDO:0013644",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013644",
            "categories": []
        },
        {
            "id": "MIM:614228",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614228",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "Q9JHU4",
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            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "dynein, cytoplasmic, heavy chain 1",
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                    "name": "legs at odd angle",
                    "type": "synonym"
                },
                {
                    "name": "sprawling",
                    "type": "synonym"
                }
            ],
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                    "name": "Dync1h1",
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                    "name": "DHC1a",
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                },
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                    "name": "DHC1",
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                },
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                    "name": "DNCL",
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                },
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                {
                    "name": "Dnch1",
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                },
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                    "type": "synonym"
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                {
                    "name": "Dnec1",
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                },
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                    "name": "Dyhc",
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                },
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                    "name": "Dync1h1",
                    "type": "synonym"
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                {
                    "name": "Loa",
                    "type": "synonym"
                },
                {
                    "name": "MAP1C",
                    "type": "synonym"
                },
                {
                    "name": "P22",
                    "type": "synonym"
                },
                {
                    "name": "Swl",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0325",
                    "type": "synonym"
                }
            ],
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                    "id": "0110175",
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            ]
        },
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                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                }
            ],
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                {
                    "name": "Cytoplasmic dynein 1 heavy chain 1",
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                {
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                {
                    "name": "dynein heavy chain, cytosolic",
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                },
                {
                    "name": "dynein, cytoplasmic, heavy polypeptide 1",
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            ],
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                    "name": "DYNC1H1",
                    "type": "recommended"
                },
                {
                    "name": "CDCBM13",
                    "type": "synonym"
                },
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                    "name": "CMT2O",
                    "type": "synonym"
                },
                {
                    "name": "DHC1a",
                    "type": "synonym"
                },
                {
                    "name": "DHC1",
                    "type": "synonym"
                },
                {
                    "name": "DNCH1",
                    "type": "synonym"
                },
                {
                    "name": "DNCL",
                    "type": "synonym"
                },
                {
                    "name": "DNECL",
                    "type": "synonym"
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                {
                    "name": "DYHC",
                    "type": "synonym"
                },
                {
                    "name": "DYNC1H1",
                    "type": "synonym"
                },
                {
                    "name": "Dnchc1",
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                {
                    "name": "HL-3",
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                {
                    "name": "KIAA0325",
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                },
                {
                    "name": "SMALED1",
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                {
                    "name": "p22",
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                    "id": "0110175",
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                }
            ]
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        {
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "glygen_name": "Yeast",
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                    "name": "Dynein heavy chain, cytoplasmic",
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                },
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                    "name": "DYHC",
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                },
                {
                    "name": "Dynein heavy chain, cytosolic",
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                {
                    "name": "dynein heavy chain",
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                {
                    "name": "DYN1",
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                },
                {
                    "name": "DYN1",
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                {
                    "name": "PAC6",
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Cytoplasmic dynein heavy chain 1",
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                },
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                    "name": "Dynein heavy chain, cytosolic",
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                },
                {
                    "name": "MAP 1C",
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                {
                    "name": "microtubule-associated protein 1 C",
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            ],
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                    "name": "Dhc1",
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                    "name": "Dnchc1",
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                    "name": "Dyhc",
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                {
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                {
                    "name": "potassium large conductance calcium-activated channel, subfamily M, beta member 1",
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                    "name": "female sterile(3)Laborc",
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                    "name": "Dynein",
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                    "name": "Fs(3)Sz18",
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                    "name": "HMW MAP",
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                    "name": "Lab",
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                    "name": "l(3)64Ca",
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                    "id": "0110175",
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                }
            ]
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                }
            ],
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                    "name": "Catenin alpha-3",
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                    "name": "Alpha T-catenin",
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                {
                    "name": "Cadherin-associated protein",
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                },
                {
                    "name": "alpha-T-catenin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-catenin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "catenin (cadherin-associated protein), alpha 3",
                    "type": "synonym"
                },
                {
                    "name": "catenin alpha-3 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTNNA3",
                    "type": "recommended"
                },
                {
                    "name": "ARVD13",
                    "type": "synonym"
                },
                {
                    "name": "CTNNA3",
                    "type": "synonym"
                },
                {
                    "name": "VR22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UI47-1",
            "evidence": [
                {
                    "id": "0110175",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110175"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110175"
}