{
    "disease_id": "DOID:0110157",
    "recommended_name": {
        "id": "DOID:0110157",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110157",
        "name": "Charcot-Marie-Tooth disease type 2J",
        "description": "A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110157",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110157",
            "name": "CMT2J",
            "description": ""
        },
        {
            "id": "DOID:0110157",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110157",
            "name": "Charcot-Marie-Tooth neuropathy type 2J",
            "description": ""
        },
        {
            "id": "DOID:0110157",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110157",
            "name": "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0011903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011903",
            "name": "Charcot-Marie-Tooth disease type 2J",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy."
        },
        {
            "id": "MONDO:0011903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011903",
            "name": "CMT2J",
            "description": ""
        },
        {
            "id": "MONDO:0011903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011903",
            "name": "Charcot-Marie-Tooth disease, type 2J",
            "description": ""
        },
        {
            "id": "MONDO:0011903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011903",
            "name": "CMT 2J",
            "description": ""
        },
        {
            "id": "MONDO:0011903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011903",
            "name": "Charcot Marie Tooth disease type 2J",
            "description": ""
        },
        {
            "id": "MONDO:0011903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011903",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2J",
            "description": ""
        },
        {
            "id": "MIM:607736",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607736",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2J",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2J"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110157"
    ],
    "unlinked_id_list": []
}