{
    "disease_id": "DOID:0110158",
    "recommended_name": {
        "id": "DOID:0110158",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110158",
        "name": "Charcot-Marie-Tooth disease type 2I",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110158",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110158",
            "name": "CMT2I",
            "description": ""
        },
        {
            "id": "DOID:0110158",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110158",
            "name": "Charcot-Marie-Tooth neuropathy type 2I",
            "description": ""
        },
        {
            "id": "MONDO:0011889",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011889",
            "name": "Charcot-Marie-Tooth disease type 2I",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes."
        },
        {
            "id": "MONDO:0011889",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011889",
            "name": "CMT2I",
            "description": ""
        },
        {
            "id": "MONDO:0011889",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011889",
            "name": "Charcot-Marie-Tooth disease, type 2I",
            "description": ""
        },
        {
            "id": "MONDO:0011889",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011889",
            "name": "CMT 2I",
            "description": ""
        },
        {
            "id": "MONDO:0011889",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011889",
            "name": "Charcot Marie Tooth disease type 2I",
            "description": ""
        },
        {
            "id": "MONDO:0011889",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011889",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2I",
            "description": ""
        },
        {
            "id": "MIM:607677",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607677",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2I",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2I"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110158"
    ],
    "unlinked_id_list": []
}