{
    "disease_id": "DOID:0110154",
    "recommended_name": {
        "id": "DOID:0110154",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110154",
        "name": "Charcot-Marie-Tooth disease type 2A1",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0110154",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110154",
            "name": "CMT2A1",
            "description": ""
        },
        {
            "id": "DOID:0110154",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110154",
            "name": "Charcot-Marie-Tooth disease neuronal type 2A1",
            "description": ""
        },
        {
            "id": "DOID:0110154",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110154",
            "name": "Charcot-Marie-Tooth neuropathy type 2A1",
            "description": ""
        },
        {
            "id": "DOID:0110154",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110154",
            "name": "HMSN IIA1",
            "description": ""
        },
        {
            "id": "DOID:0110154",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110154",
            "name": "HMSN2A1",
            "description": ""
        },
        {
            "id": "DOID:0110154",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110154",
            "name": "hereditary motor and sensory neuropathy IIA1",
            "description": ""
        },
        {
            "id": "DOID:0110154",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110154",
            "name": "autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease type 2A1",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor."
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth neuropathy type 2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "hereditary motor and sensory neuropathy IIA1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease, neuronal, type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Hmsn2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "hereditary motor and sensory neuropathy 2 A",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "CMT2A",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "HMSN IIa1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "CMT 2A",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth neuropathy, type 2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot Marie Tooth disease type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "CMT2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease neuronal type 2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "KIF1B Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "hereditary motor and sensory neuropathy IIa1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "HMSN2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "HMSN IIA",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "HMSN IIA1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2A1; CMT2A1",
            "description": ""
        },
        {
            "id": "MONDO:0007308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007308",
            "name": "Charcot-Marie-Tooth disease, neuronal, type 2A1",
            "description": ""
        },
        {
            "id": "MIM:118210",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/118210",
            "name": "Charcot-Marie-Tooth disease 2A1",
            "description": "Charcot-Marie-Tooth disease 2A1"
        }
    ]
}