{
    "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": "CMT4E",
            "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": "Charcot-Marie-Tooth neuropathy 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": "autosomal recessive congenital hypomyelinating or amyelinating neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "hypomyelinating neuropathy, congenital, 1",
            "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": "CHN",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "CHN1",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "CMT 4E",
            "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": "Charcot-Marie-Tooth disease, type 4E",
            "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": "NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE",
            "description": ""
        },
        {
            "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": "congenital hypomyelination neuropathy",
            "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",
            "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": "neuropathy, congenital hypomyelinating, autosomal dominant",
            "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"
        }
    ]
}