{
    "disease_id": "DOID:0080068",
    "recommended_name": {
        "id": "DOID:0080068",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080068",
        "name": "Charcot-Marie-Tooth disease type 6",
        "description": "A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity."
    },
    "synonyms": [
        {
            "id": "DOID:0080068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080068",
            "name": "hereditary motor and sensory neuropathy type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011002",
            "name": "neuropathy, hereditary motor and sensory, type 6A",
            "description": "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene."
        },
        {
            "id": "MONDO:0011002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011002",
            "name": "Charcot-Marie-Tooth disease, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011002",
            "name": "neuropathy, hereditary motor and sensory, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011002",
            "name": "peripheral neuropathy and optic atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011002",
            "name": "Charcot-Marie-Tooth disease, type 6A",
            "description": ""
        },
        {
            "id": "MONDO:0011002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011002",
            "name": "HMSN6A",
            "description": ""
        },
        {
            "id": "MONDO:0011002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011002",
            "name": "MFN2 hereditary motor and sensory neuropathy type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011002",
            "name": "hereditary motor and sensory neuropathy VIA",
            "description": ""
        },
        {
            "id": "MONDO:0011002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011002",
            "name": "hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2",
            "description": ""
        },
        {
            "id": "MONDO:0011002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011002",
            "name": "neuropathy, hereditary motor and sensory, type VIA",
            "description": ""
        },
        {
            "id": "MONDO:0014671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014671",
            "name": "neuropathy, hereditary motor and sensory, type 6B",
            "description": "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene."
        },
        {
            "id": "MONDO:0014671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014671",
            "name": "CMT6B",
            "description": ""
        },
        {
            "id": "MONDO:0014671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014671",
            "name": "Charcot-Marie-Tooth disease, type 6B",
            "description": ""
        },
        {
            "id": "MONDO:0014671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014671",
            "name": "HMSN 6B",
            "description": ""
        },
        {
            "id": "MONDO:0014671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014671",
            "name": "HMSN6B",
            "description": ""
        },
        {
            "id": "MONDO:0014671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014671",
            "name": "SLC25A46 hereditary motor and sensory neuropathy type 6",
            "description": ""
        },
        {
            "id": "MONDO:0014671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014671",
            "name": "hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46",
            "description": ""
        },
        {
            "id": "MONDO:0014671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014671",
            "name": "neuropathy, hereditary motor and sensory, type 6B",
            "description": ""
        },
        {
            "id": "MONDO:0014671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014671",
            "name": "neuropathy, hereditary motor and sensory, type VIB",
            "description": ""
        },
        {
            "id": "MIM:601152",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601152",
            "name": "Neuropathy, hereditary motor and sensory, 6A, with optic atrophy",
            "description": "Neuropathy, hereditary motor and sensory, 6A, with optic atrophy"
        },
        {
            "id": "MIM:616505",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616505",
            "name": "Neuropathy, hereditary motor and sensory, 6B, with optic atrophy",
            "description": "Neuropathy, hereditary motor and sensory, 6B, with optic atrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080068"
    ],
    "unlinked_id_list": []
}
