{
    "disease_id": "DOID:0110190",
    "recommended_name": {
        "id": "DOID:0110190",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110190",
        "name": "Charcot-Marie-Tooth disease type 4B2",
        "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0110190",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110190",
            "name": "CMT4B2",
            "description": ""
        },
        {
            "id": "DOID:0110190",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110190",
            "name": "Charcot-Marie-Tooth neuropathy type 4B2",
            "description": ""
        },
        {
            "id": "DOID:0110190",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110190",
            "name": "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "Charcot-Marie-Tooth disease type 4B2",
            "description": "Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported."
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "CMT4B2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "Charcot-Marie-Tooth disease type 4B2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "Charcot-Marie-Tooth neuropathy type 4B2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "SBF2 Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "CMT 4B2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "Charcot Marie Tooth disease type 4B2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "Charcot-Marie-Tooth disease, type 4B2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "Charcot-Marie-Tooth neuropathy, type 4B2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma",
            "description": ""
        },
        {
            "id": "MIM:604563",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604563",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 4B2",
            "description": "Charcot-Marie-Tooth disease, demyelinating, type 4B2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110190"
    ],
    "unlinked_id_list": []
}