{
    "disease_id": "DOID:0110159",
    "recommended_name": {
        "id": "DOID:0110159",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110159",
        "name": "Charcot-Marie-Tooth disease type 2B",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110159",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110159",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2B",
            "description": ""
        },
        {
            "id": "DOID:0110159",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110159",
            "name": "CMT2B",
            "description": ""
        },
        {
            "id": "DOID:0110159",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110159",
            "name": "Charcot-Marie-Tooth neuropathy type 2B",
            "description": ""
        },
        {
            "id": "DOID:0110159",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110159",
            "name": "HMSN IIB",
            "description": ""
        },
        {
            "id": "DOID:0110159",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110159",
            "name": "HMSN2B",
            "description": ""
        },
        {
            "id": "DOID:0110159",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110159",
            "name": "hereditary motor and sensory nueropathy IIB",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "Charcot-Marie-Tooth disease type 2B",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood."
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "CMT2B",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "Charcot-Marie-Tooth disease, type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "HMSN2B",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "RAB7A Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "CMT 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "Charcot Marie Tooth disease type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "Charcot-Marie-Tooth disease, neuronal, type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "hereditary motor and sensory neuropathy 2 B (HMSN 2 B)",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "peripheral sensory neuropathy, autosomal dominant (PSN)",
            "description": ""
        },
        {
            "id": "MIM:600882",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600882",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2B",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110159"
    ],
    "unlinked_id_list": []
}