{
    "disease_id": "DOID:0110155",
    "recommended_name": {
        "id": "DOID:0110155",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110155",
        "name": "Charcot-Marie-Tooth disease type 2A2A",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22."
    },
    "synonyms": [
        {
            "id": "DOID:0110155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110155",
            "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2",
            "description": ""
        },
        {
            "id": "DOID:0110155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110155",
            "name": "CMT2A2A",
            "description": ""
        },
        {
            "id": "DOID:0110155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110155",
            "name": "Charcot-Marie-Tooth neuronal type 2A2",
            "description": ""
        },
        {
            "id": "DOID:0110155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110155",
            "name": "Charcot-Marie-Tooth neuropathy type 2A2",
            "description": ""
        },
        {
            "id": "DOID:0110155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110155",
            "name": "HMSN IIA2",
            "description": ""
        },
        {
            "id": "DOID:0110155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110155",
            "name": "HMSN2A2",
            "description": ""
        },
        {
            "id": "DOID:0110155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110155",
            "name": "hereditary motor and sensory neuropathy IIA2",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "Charcot-Marie-Tooth disease type 2A2",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported."
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "CMT2A2",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "Charcot-Marie-Tooth disease type 2A2A",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2A2A",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "HMSN IIA2",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "HMSN2A2",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "MFN2 Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "hereditary motor and sensory neuropathy IIA2",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "CMT2A2A",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2A2",
            "description": ""
        },
        {
            "id": "MIM:609260",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609260",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2A2A",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2A2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110155"
    ],
    "unlinked_id_list": []
}