{
    "disease_id": "DOID:0110171",
    "recommended_name": {
        "id": "DOID:0110171",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110171",
        "name": "Charcot-Marie-Tooth disease axonal type 2S",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110171",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110171",
            "name": "CMT2S",
            "description": ""
        },
        {
            "id": "DOID:0110171",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110171",
            "name": "Charcot-Marie-Tooth disease type 2S",
            "description": ""
        },
        {
            "id": "DOID:0110171",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110171",
            "name": "Charcot-Marie-Tooth neuropathy type 2S",
            "description": ""
        },
        {
            "id": "DOID:0110171",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110171",
            "name": "autosomal recessive axonal Charcot-Marie-Tooth type 2S",
            "description": ""
        },
        {
            "id": "MONDO:0014511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "name": "Charcot-Marie-Tooth disease axonal type 2S",
            "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene."
        },
        {
            "id": "MONDO:0014511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "name": "CMT2S",
            "description": ""
        },
        {
            "id": "MONDO:0014511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "name": "Charcot-Marie-Tooth disease caused by mutation in IGHMBP2",
            "description": ""
        },
        {
            "id": "MONDO:0014511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "name": "Charcot-Marie-Tooth disease type 2S",
            "description": ""
        },
        {
            "id": "MONDO:0014511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "name": "Charcot-Marie-Tooth neuropathy type 2S",
            "description": ""
        },
        {
            "id": "MONDO:0014511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "name": "IGHMBP2 Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0014511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "name": "autosomal recessive axonal Charcot-Marie-Tooth type 2S",
            "description": ""
        },
        {
            "id": "MONDO:0014511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S",
            "description": ""
        },
        {
            "id": "MONDO:0014511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2S",
            "description": ""
        },
        {
            "id": "MONDO:0014511",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014511",
            "name": "Charcot-Marie-Tooth neuropathy, type 2S",
            "description": ""
        },
        {
            "id": "MIM:616155",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616155",
            "name": "Charcot-Marie-Tooth disease, axonal, 2S",
            "description": "Charcot-Marie-Tooth disease, axonal, 2S"
        }
    ]
}