{
    "disease_id": "DOID:0110179",
    "recommended_name": {
        "id": "DOID:0110179",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110179",
        "name": "Charcot-Marie-Tooth disease type 2B2",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0110179",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110179",
            "name": "AR-CMT2B2",
            "description": ""
        },
        {
            "id": "DOID:0110179",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110179",
            "name": "ARCMT2B",
            "description": ""
        },
        {
            "id": "DOID:0110179",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110179",
            "name": "Autosomal recessive axonal CMT4C3",
            "description": ""
        },
        {
            "id": "DOID:0110179",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110179",
            "name": "CMT2B2",
            "description": ""
        },
        {
            "id": "DOID:0110179",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110179",
            "name": "Charcot-Marie-Tooth disease neuronal type 2B2",
            "description": ""
        },
        {
            "id": "DOID:0110179",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110179",
            "name": "Charcot-Marie-Tooth neuropathy type 2B2",
            "description": ""
        },
        {
            "id": "DOID:0110179",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110179",
            "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot-Marie-Tooth disease type 2B2",
            "description": "Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry."
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "AR-CMT2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "ARCMT2B",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "CMT2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot-Marie-Tooth disease neuronal type 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in MED25",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot-Marie-Tooth disease type 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot-Marie-Tooth disease, type 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot-Marie-Tooth neuropathy type 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "MED25 Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "autosomal recessive axonal CMT4C3",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Arcmt2B",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "CMT 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot Marie Tooth disease type 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot-Marie-Tooth disease, neuronal, type 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0011570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011570",
            "name": "Charcot-Marie-Tooth neuropathy, type 2B2",
            "description": ""
        },
        {
            "id": "MIM:605589",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605589",
            "name": "Charcot-Marie-Tooth disease, axonal, 2B2",
            "description": "Charcot-Marie-Tooth disease, axonal, 2B2"
        }
    ]
}