{
    "disease_id": "DOID:0110195",
    "recommended_name": {
        "id": "DOID:0110195",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110195",
        "name": "Charcot-Marie-Tooth disease type 4E",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0110195",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110195",
            "name": "CMT4E",
            "description": ""
        },
        {
            "id": "DOID:0110195",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110195",
            "name": "Charcot-Marie-Tooth neuropathy type 4E",
            "description": ""
        },
        {
            "id": "DOID:0110195",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110195",
            "name": "Neuropathy, congenital hypomyelinating, 1",
            "description": ""
        },
        {
            "id": "DOID:0110195",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110195",
            "name": "autosomal recessive congenital hypomyelinating or amyelinating neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "Charcot-Marie-Tooth disease type 4E",
            "description": "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity."
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "congenital hypomyelinating neuropathy (CHN)",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "Charcot-Marie-Tooth neuropathy, type 4E",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "autosomal recessive congenital hypomyelinating or amyelinating neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "CHN",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive; CHN",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "CMT4E",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "Charcot-Marie-Tooth neuropathy type 4E",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "hypomyelination, Severe congenital",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "neuropathy, congenital hypomyelinating, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "congenital hypomyelination neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "neuropathy, congenital hypomyelinating, 1",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "Charcot-Marie-Tooth disease, type 4E",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "autosomal recessive congenital hypomyelinating neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "Charcot-Marie-Tooth disease type 4E",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "neuropathy, congenital hypomyelinating",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "Charcot Marie Tooth disease type 4E",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "CMT 4E",
            "description": ""
        },
        {
            "id": "MIM:605253",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605253",
            "name": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive",
            "description": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive"
        }
    ]
}