{
    "disease_id": "DOID:0110183",
    "recommended_name": {
        "id": "DOID:0110183",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110183",
        "name": "Charcot-Marie-Tooth disease type 4C",
        "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0110183",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110183",
            "name": "CMT4C",
            "description": ""
        },
        {
            "id": "DOID:0110183",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110183",
            "name": "Charcot-Marie-Tooth neuropathy type 4C",
            "description": ""
        },
        {
            "id": "DOID:0110183",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110183",
            "name": "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "Charcot-Marie-Tooth disease type 4C",
            "description": "Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported."
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "SH3TC2 Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "Charcot-Marie-Tooth disease, type 4C",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "Charcot-Marie-Tooth neuropathy type 4C",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "Charcot-Marie-Tooth neuropathy, type 4C",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "CMT4C",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "CMT 4C",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "Charcot Marie Tooth disease type 4C",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2",
            "description": ""
        },
        {
            "id": "MONDO:0011113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011113",
            "name": "Charcot-Marie-Tooth disease, type 4C; CMT4C",
            "description": ""
        },
        {
            "id": "MIM:601596",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601596",
            "name": "Charcot-Marie-Tooth disease 4C",
            "description": "Charcot-Marie-Tooth disease 4C"
        }
    ]
}