{
    "disease_id": "DOID:0110163",
    "recommended_name": {
        "id": "DOID:0110163",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110163",
        "name": "Charcot-Marie-Tooth disease axonal type 2F",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1)."
    },
    "synonyms": [
        {
            "id": "DOID:0110163",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110163",
            "name": "CMT2F",
            "description": ""
        },
        {
            "id": "DOID:0110163",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110163",
            "name": "Charcot-Marie-Tooth neuronal type 2F",
            "description": ""
        },
        {
            "id": "DOID:0110163",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110163",
            "name": "Charcot-Marie-Tooth neuropathy type 2F",
            "description": ""
        },
        {
            "id": "DOID:0110163",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110163",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2F",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "Charcot-Marie-Tooth disease axonal type 2F",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop."
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "CMT2F",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "HSPB1 Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2F",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "CMT 2F",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "Charcot Marie Tooth disease type 2F",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "Charcot-Marie-Tooth disease type 2F",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2F",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "Charcot-Marie-Tooth disease, neuronal, type 2F",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "Charcot-Marie-Tooth neuropathy, type 2F",
            "description": ""
        },
        {
            "id": "MIM:606595",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606595",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2F",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2F"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110163"
    ],
    "unlinked_id_list": []
}