{
    "disease_id": "DOID:0110174",
    "recommended_name": {
        "id": "DOID:0110174",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110174",
        "name": "Charcot-Marie-Tooth disease axonal type 2L",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0110174",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110174",
            "name": "CMT2L",
            "description": ""
        },
        {
            "id": "DOID:0110174",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110174",
            "name": "Charcot-Marie-Tooth neuropathy axonal type 2L",
            "description": ""
        },
        {
            "id": "DOID:0110174",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110174",
            "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2L",
            "description": ""
        },
        {
            "id": "DOID:0110174",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110174",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2L",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "Charcot-Marie-Tooth disease axonal type 2L",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow."
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "CMT2L",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2L",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2L; CMT2L",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "Charcot-Marie-Tooth disease type 2L",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2L",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2L",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "Charcot-Marie-Tooth neuropathy axonal type 2L",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "Charcot-Marie-Tooth neuropathy, axonal, type 2L",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "HSPB8 Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MIM:608673",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608673",
            "name": "Charcot-Marie-Tooth disease 2L",
            "description": "Charcot-Marie-Tooth disease 2L"
        }
    ]
}