{
    "disease_id": "DOID:0110211",
    "recommended_name": {
        "id": "DOID:0110211",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110211",
        "name": "Charcot-Marie-Tooth disease X-linked recessive 3",
        "description": "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26."
    },
    "synonyms": [
        {
            "id": "DOID:0110211",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110211",
            "name": "CMT3X",
            "description": ""
        },
        {
            "id": "DOID:0110211",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110211",
            "name": "CMTX3",
            "description": ""
        },
        {
            "id": "DOID:0110211",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110211",
            "name": "X-linked Charcot-Marie-Tooth disease type 3",
            "description": ""
        },
        {
            "id": "DOID:0110211",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110211",
            "name": "Charcot-Marie-Tooth neuropathy X-linked recessive 3",
            "description": ""
        },
        {
            "id": "MONDO:0010551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010551",
            "name": "Charcot-Marie-Tooth disease X-linked recessive 3",
            "description": "X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported."
        },
        {
            "id": "MONDO:0010551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010551",
            "name": "Charcot-Marie-Tooth disease X-linked recessive type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010551",
            "name": "Charcot Marie Tooth disease X-linked recessive 3",
            "description": ""
        },
        {
            "id": "MONDO:0010551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010551",
            "name": "Charcot-Marie-Tooth disease, X-linked recessive, 3",
            "description": ""
        },
        {
            "id": "MONDO:0010551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010551",
            "name": "CMTX3",
            "description": ""
        },
        {
            "id": "MONDO:0010551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010551",
            "name": "X-linked Charcot-Marie-Tooth disease type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010551",
            "name": "Charcot-Marie-Tooth disease, X-linked recessive, 3; CMTX3",
            "description": ""
        },
        {
            "id": "MONDO:0010551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010551",
            "name": "Charcot-Marie-Tooth neuropathy, X-linked recessive, 3",
            "description": ""
        },
        {
            "id": "MONDO:0010551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010551",
            "name": "CMTX 3",
            "description": ""
        },
        {
            "id": "MONDO:0010551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010551",
            "name": "Charcot-Marie-Tooth neuropathy X-linked recessive 3",
            "description": ""
        },
        {
            "id": "MONDO:0010551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010551",
            "name": "CMT3X",
            "description": ""
        }
    ]
}