{
    "disease_id": "DOID:0110180",
    "recommended_name": {
        "id": "DOID:0110180",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110180",
        "name": "Charcot-Marie-Tooth disease axonal type 2CC",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110180",
            "name": "CMT2CC",
            "description": ""
        },
        {
            "id": "DOID:0110180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110180",
            "name": "Charcot-Marie-Tooth neuropathy type 2CC",
            "description": ""
        },
        {
            "id": "MONDO:0014836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014836",
            "name": "Charcot-Marie-Tooth disease axonal type 2CC",
            "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene."
        },
        {
            "id": "MONDO:0014836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014836",
            "name": "CMT2CC",
            "description": ""
        },
        {
            "id": "MONDO:0014836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014836",
            "name": "Charcot-Marie-Tooth disease axonal type 2CC",
            "description": ""
        },
        {
            "id": "MONDO:0014836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014836",
            "name": "Charcot-Marie-Tooth disease caused by mutation in NEFH",
            "description": ""
        },
        {
            "id": "MONDO:0014836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014836",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2cc",
            "description": ""
        },
        {
            "id": "MONDO:0014836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014836",
            "name": "NEFH Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MIM:616924",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616924",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2CC",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2CC"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110180"
    ],
    "unlinked_id_list": []
}