{
    "disease_id": "DOID:0111557",
    "recommended_name": {
        "id": "DOID:0111557",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111557",
        "name": "Charcot-Marie-Tooth disease type 2A2B",
        "description": "A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22."
    },
    "synonyms": [
        {
            "id": "DOID:0111557",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111557",
            "name": "AR-CMT2, Ouvrier type",
            "description": ""
        },
        {
            "id": "DOID:0111557",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111557",
            "name": "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type",
            "description": ""
        },
        {
            "id": "DOID:0111557",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111557",
            "name": "CMT2A2B",
            "description": ""
        },
        {
            "id": "DOID:0111557",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111557",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2A2B",
            "description": ""
        },
        {
            "id": "DOID:0111557",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111557",
            "name": "SEOAN due to MFN2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111557",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111557",
            "name": "severe early-onset axonal neuropathy due to MFN2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014906",
            "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;",
            "description": "An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A."
        },
        {
            "id": "MONDO:0014906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014906",
            "name": "Charcot-Marie-Tooth disease type 2A2B",
            "description": ""
        },
        {
            "id": "MONDO:0014906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014906",
            "name": "CMT2A2B",
            "description": ""
        },
        {
            "id": "MIM:617087",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617087",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2A2B",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2A2B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111557"
    ],
    "unlinked_id_list": []
}