{
    "disease_id": "DOID:0110165", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011894", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011894", 
            "name": "CMT 2E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011894", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011894", 
            "name": "Charcot Marie Tooth disease type 2E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011894", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011894", 
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011894", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011894", 
            "name": "Charcot-Marie-Tooth disease, axonal, type 2E; CMT2E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011894", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011894", 
            "name": "Charcot-Marie-Tooth disease, axonal, type 2E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011894", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011894", 
            "name": "Charcot-Marie-Tooth neuropathy type 2E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011894", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011894", 
            "name": "CMT2E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011894", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011894", 
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011894", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011894", 
            "name": "Charcot-Marie-Tooth neuropathy, type 2E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011894", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011894", 
            "name": "NEFL Charcot-Marie-Tooth disease type 2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110165", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110165", 
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2E"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110165", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110165", 
            "name": "CMT2E"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110165", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110165", 
            "name": "Charcot-Marie-Tooth neuropathy type 2E"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110165", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110165", 
        "name": "Charcot-Marie-Tooth disease type 2E"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110165#disease-associations", 
            "id": "0110165", 
            "database": "Alliance of Genome Resources"
        }
    ]
}