{
    "disease_id": "DOID:0110187",
    "recommended_name": {
        "id": "DOID:0110187",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110187",
        "name": "Charcot-Marie-Tooth disease type 4K",
        "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0110187",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110187",
            "name": "CMT4K",
            "description": ""
        },
        {
            "id": "DOID:0110187",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110187",
            "name": "SURF1-related CMT4",
            "description": ""
        },
        {
            "id": "DOID:0110187",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110187",
            "name": "SURF1-related Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "DOID:0110187",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110187",
            "name": "SURF1-related severe demyelinating Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "DOID:0110187",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110187",
            "name": "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K",
            "description": ""
        },
        {
            "id": "DOID:0110187",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110187",
            "name": "autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K",
            "description": ""
        },
        {
            "id": "MONDO:0014733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014733",
            "name": "Charcot-Marie-Tooth disease type 4K",
            "description": "SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions)."
        },
        {
            "id": "MONDO:0014733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014733",
            "name": "CMT4K",
            "description": ""
        },
        {
            "id": "MONDO:0014733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014733",
            "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1",
            "description": ""
        },
        {
            "id": "MONDO:0014733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014733",
            "name": "Charcot-Marie-Tooth disease type 4K",
            "description": ""
        },
        {
            "id": "MONDO:0014733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014733",
            "name": "Charcot-Marie-Tooth disease, type 4k",
            "description": ""
        },
        {
            "id": "MONDO:0014733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014733",
            "name": "SURF1 Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014733",
            "name": "SURF1-related CMT4",
            "description": ""
        },
        {
            "id": "MONDO:0014733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014733",
            "name": "SURF1-related Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014733",
            "name": "SURF1-related severe demyelinating Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0014733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014733",
            "name": "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K",
            "description": ""
        },
        {
            "id": "MONDO:0014733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014733",
            "name": "autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K",
            "description": ""
        },
        {
            "id": "MONDO:0014733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014733",
            "name": "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K",
            "description": ""
        },
        {
            "id": "MONDO:0014733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014733",
            "name": "Charcot-Marie-Tooth disease, type 4K",
            "description": ""
        },
        {
            "id": "MONDO:0014733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014733",
            "name": "Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K",
            "description": ""
        },
        {
            "id": "MIM:616684",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616684",
            "name": "Charcot-Marie-Tooth disease 4K",
            "description": "Charcot-Marie-Tooth disease 4K"
        }
    ]
}