{
    "disease_id": "DOID:0110182",
    "recommended_name": {
        "id": "DOID:0110182",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110182",
        "name": "Charcot-Marie-Tooth disease axonal type 2C",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110182",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110182",
            "name": "CMT2C",
            "description": ""
        },
        {
            "id": "DOID:0110182",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110182",
            "name": "Charcot-Marie-Tooth neuropathy type 2C",
            "description": ""
        },
        {
            "id": "DOID:0110182",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110182",
            "name": "HMSN2C",
            "description": ""
        },
        {
            "id": "DOID:0110182",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110182",
            "name": "hereditary motor and sensory neuropathy type IIc",
            "description": ""
        },
        {
            "id": "DOID:0110182",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110182",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2C",
            "description": ""
        },
        {
            "id": "DOID:0110182",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110182",
            "name": "autosomal cominant axonal Charcot-Marie-Tooth disease type 2C",
            "description": ""
        },
        {
            "id": "MONDO:0011633",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011633",
            "name": "Charcot-Marie-Tooth disease axonal type 2C",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade."
        },
        {
            "id": "MONDO:0011633",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011633",
            "name": "CMT2C",
            "description": ""
        },
        {
            "id": "MONDO:0011633",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011633",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4",
            "description": ""
        },
        {
            "id": "MONDO:0011633",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011633",
            "name": "HMSN2C",
            "description": ""
        },
        {
            "id": "MONDO:0011633",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011633",
            "name": "TRPV4 Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011633",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011633",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2C",
            "description": ""
        },
        {
            "id": "MONDO:0011633",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011633",
            "name": "CMT 2C",
            "description": ""
        },
        {
            "id": "MONDO:0011633",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011633",
            "name": "Charcot Marie Tooth disease type 2C",
            "description": ""
        },
        {
            "id": "MONDO:0011633",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011633",
            "name": "Charcot-Marie-Tooth disease type 2C",
            "description": ""
        },
        {
            "id": "MONDO:0011633",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011633",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2C",
            "description": ""
        },
        {
            "id": "MONDO:0011633",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011633",
            "name": "HMSN 2 C",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011633",
            "name": "hereditary motor and sensory neuropathy 2 C",
            "description": ""
        },
        {
            "id": "MONDO:0011633",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011633",
            "name": "hereditary motor and sensory neuropathy, type IIC",
            "description": ""
        },
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            "url": "https://www.omim.org/entry/606071",
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            "description": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C"
        }
    ],
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    ],
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        {
            "id": "DOID:0110182",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110182",
            "categories": []
        },
        {
            "id": "MONDO:0011633",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011633",
            "categories": []
        },
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            "database": "MIM",
            "url": "https://www.omim.org/entry/606071",
            "categories": []
        }
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                }
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                }
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            ],
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                    "name": "CG5842-PB",
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                },
                {
                    "name": "NANCHUNG",
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                },
                {
                    "name": "Nanchung, isoform B",
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                },
                {
                    "name": "nan-PB",
                    "type": "synonym"
                },
                {
                    "name": "nanchung, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential vanilloid",
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                }
            ],
            "gene_names": [
                {
                    "name": "nan",
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                },
                {
                    "name": "CG5842",
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                },
                {
                    "name": "CT18317",
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                },
                {
                    "name": "DmNan",
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                },
                {
                    "name": "Dmel\\CG5842",
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                },
                {
                    "name": "Dmel_CG5842",
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                },
                {
                    "name": "Iav",
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                },
                {
                    "name": "NAN",
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                },
                {
                    "name": "Nan",
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                },
                {
                    "name": "OCR",
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                {
                    "name": "TRPV",
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                {
                    "name": "nan",
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            ],
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                {
                    "id": "0110182",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3W0-1",
            "uniprot_ac": "Q9W3W0",
            "uniprot_id": "Q9W3W0_DROME",
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                {
                    "name": "Drosophila melanogaster",
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                }
            ],
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                },
                {
                    "name": "Inactive",
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                {
                    "name": "iav-PA",
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                {
                    "name": "inactive",
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            ],
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                    "name": "CG4536",
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                    "name": "CT14708",
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                    "name": "DmIav",
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                    "name": "Dmel\\CG4536",
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                {
                    "name": "IAV",
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                {
                    "name": "Iav",
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                    "name": "hypoB",
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                    "name": "iav",
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                {
                    "name": "osm-9",
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                    "id": "0110182",
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        },
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            "uniprot_canonical_ac": "Q8TB36-1",
            "uniprot_ac": "Q8TB36",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ganglioside-induced differentiation-associated protein 1",
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                {
                    "name": "Charcot-Marie-Tooth neuropathy 4A",
                    "type": "synonym"
                },
                {
                    "name": "GDAP1",
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                {
                    "name": "ganglioside-induced differentiation-associated protein 1 isoform b",
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                }
            ],
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                {
                    "name": "GDAP1",
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                {
                    "name": "CMT4A",
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                {
                    "name": "CMT4",
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                {
                    "name": "CMTRIA",
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                },
                {
                    "name": "GDAP1",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110182"
}