{
    "disease_id": "DOID:0110208",
    "recommended_name": {
        "id": "DOID:0110208",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110208",
        "name": "Charcot-Marie-Tooth disease X-linked recessive 2",
        "description": "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110208",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110208",
            "name": "CMTX2",
            "description": ""
        },
        {
            "id": "DOID:0110208",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110208",
            "name": "X-linked Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "DOID:0110208",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110208",
            "name": "Charcot-Marie-Tooth neuropathy X-linked recessive 2",
            "description": ""
        },
        {
            "id": "MONDO:0010550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010550",
            "name": "Charcot-Marie-Tooth disease X-linked recessive 2",
            "description": "X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals."
        },
        {
            "id": "MONDO:0010550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010550",
            "name": "CMTX2",
            "description": ""
        },
        {
            "id": "MONDO:0010550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010550",
            "name": "X-linked Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010550",
            "name": "Charcot-Marie-Tooth neuropathy X-linked recessive 2",
            "description": ""
        },
        {
            "id": "MONDO:0010550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010550",
            "name": "Charcot-Marie-Tooth disease, X-linked recessive, 2",
            "description": ""
        },
        {
            "id": "MONDO:0010550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010550",
            "name": "Charcot Marie Tooth disease X-linked recessive 2",
            "description": ""
        },
        {
            "id": "MONDO:0010550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010550",
            "name": "Charcot-Marie-Tooth disease, X-linked recessive, 2; CMTX2",
            "description": ""
        },
        {
            "id": "MONDO:0010550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010550",
            "name": "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2",
            "description": ""
        },
        {
            "id": "MONDO:0010550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010550",
            "name": "CMTX 2",
            "description": ""
        },
        {
            "id": "MONDO:0010550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010550",
            "name": "Charcot-Marie-Tooth disease X-linked recessive type 2",
            "description": ""
        }
    ]
}