{
    "disease_id": "DOID:0110195", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:0110195", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110195", 
            "name": "CMT4E"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110195", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110195", 
            "name": "Charcot-Marie-Tooth neuropathy type 4E"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110195", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110195", 
            "name": "Neuropathy, congenital hypomyelinating, 1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110195", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110195", 
            "name": "autosomal recessive congenital hypomyelinating or amyelinating neuropathy"
        }, 
        {
            "url": "https://www.omim.org/entry/605253", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:605253", 
            "name": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110195", 
        "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110195", 
        "name": "Charcot-Marie-Tooth disease type 4E"
    }
}