{
    "disease_id": "DOID:0110194",
    "recommended_name": {
        "id": "DOID:0110194",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110194",
        "name": "Charcot-Marie-Tooth disease type 4B3",
        "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q."
    },
    "synonyms": [
        {
            "id": "DOID:0110194",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110194",
            "name": "CMT4B3",
            "description": ""
        },
        {
            "id": "MONDO:0014117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014117",
            "name": "Charcot-Marie-Tooth disease type 4B3",
            "description": "Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss)."
        },
        {
            "id": "MONDO:0014117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014117",
            "name": "Charcot-Marie-Tooth disease, type 4B3",
            "description": ""
        },
        {
            "id": "MONDO:0014117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014117",
            "name": "Charcot-Marie-Tooth disease, type 4B3; CMT4B3",
            "description": ""
        },
        {
            "id": "MONDO:0014117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014117",
            "name": "SBF1 Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014117",
            "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1",
            "description": ""
        },
        {
            "id": "MONDO:0014117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014117",
            "name": "CMT4B3",
            "description": ""
        },
        {
            "id": "MONDO:0014117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014117",
            "name": "Charcot-Marie-Tooth disease with focally folded myelin",
            "description": ""
        },
        {
            "id": "MIM:615284",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615284",
            "name": "Charcot-Marie-Tooth disease 4B3",
            "description": "Charcot-Marie-Tooth disease 4B3"
        }
    ]
}