{
    "disease_id": "DOID:0110165",
    "recommended_name": {
        "id": "DOID:0110165",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110165",
        "name": "Charcot-Marie-Tooth disease type 2E",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110165",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110165",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2E",
            "description": ""
        },
        {
            "id": "DOID:0110165",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110165",
            "name": "CMT2E",
            "description": ""
        },
        {
            "id": "DOID:0110165",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110165",
            "name": "Charcot-Marie-Tooth neuropathy type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "Charcot-Marie-Tooth disease type 2E",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor."
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "CMT2E",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "Charcot-Marie-Tooth disease, type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "Charcot-Marie-Tooth neuropathy type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "NEFL Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "CMT 2E",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "Charcot Marie Tooth disease type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "Charcot-Marie-Tooth neuropathy, type 2E",
            "description": ""
        },
        {
            "id": "MIM:607684",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607684",
            "name": "Charcot-Marie-Tooth disease, axonal, 2E",
            "description": "Charcot-Marie-Tooth disease, axonal, 2E"
        }
    ]
}