{
    "disease_id": "DOID:0110177",
    "recommended_name": {
        "id": "DOID:0110177",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110177",
        "name": "Charcot-Marie-Tooth disease axonal type 2N",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110177",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110177",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2N",
            "description": ""
        },
        {
            "id": "DOID:0110177",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110177",
            "name": "CMT2N",
            "description": ""
        },
        {
            "id": "DOID:0110177",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110177",
            "name": "Charcot-Marie-Tooth neuropathy axonal type 2N",
            "description": ""
        },
        {
            "id": "DOID:0110177",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110177",
            "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2N",
            "description": ""
        },
        {
            "id": "MONDO:0013212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013212",
            "name": "Charcot-Marie-Tooth disease axonal type 2N",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow."
        },
        {
            "id": "MONDO:0013212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013212",
            "name": "AARS Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013212",
            "name": "CMT2N",
            "description": ""
        },
        {
            "id": "MONDO:0013212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013212",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in AARS",
            "description": ""
        },
        {
            "id": "MONDO:0013212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013212",
            "name": "Charcot-Marie-Tooth neuropathy axonal type 2N",
            "description": ""
        },
        {
            "id": "MONDO:0013212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013212",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2N",
            "description": ""
        },
        {
            "id": "MONDO:0013212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013212",
            "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2N",
            "description": ""
        },
        {
            "id": "MONDO:0013212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013212",
            "name": "Charcot-Marie-Tooth disease type 2N",
            "description": ""
        },
        {
            "id": "MONDO:0013212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013212",
            "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N",
            "description": ""
        },
        {
            "id": "MONDO:0013212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013212",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2N",
            "description": ""
        },
        {
            "id": "MONDO:0013212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013212",
            "name": "Charcot-Marie-Tooth neuropathy, axonal, type 2N",
            "description": ""
        },
        {
            "id": "MIM:613287",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613287",
            "name": "Charcot-Marie-Tooth disease, axonal, 2N",
            "description": "Charcot-Marie-Tooth disease, axonal, 2N"
        }
    ]
}