{
    "disease_id": "DOID:0110164",
    "recommended_name": {
        "id": "DOID:0110164",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110164",
        "name": "Charcot-Marie-Tooth disease type 2D",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0110164",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110164",
            "name": "CMT2D",
            "description": ""
        },
        {
            "id": "DOID:0110164",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110164",
            "name": "Charcot-Marie-Tooth disease neuronal type 2D",
            "description": ""
        },
        {
            "id": "DOID:0110164",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110164",
            "name": "Charcot-Marie-Tooth neuropathy type 2D",
            "description": ""
        },
        {
            "id": "DOID:0110164",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110164",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2D",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011091",
            "name": "Charcot-Marie-Tooth disease type 2D",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow."
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011091",
            "name": "CMT2D",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011091",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in GARS",
            "description": ""
        },
        {
            "id": "MONDO:0011091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011091",
            "name": "Charcot-Marie-Tooth disease, type 2D",
            "description": ""
        },
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            "resource": "MONDO",
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            "name": "GARS Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011091",
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            "description": ""
        },
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        },
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            "name": "Charcot Marie Tooth disease type 2D",
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        },
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            "url": "https://monarchinitiative.org/disease/MONDO:0011091",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2D",
            "description": ""
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        }
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            "database": "Disease Ontology",
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        },
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            "url": "https://monarchinitiative.org/disease/MONDO:0011091",
            "categories": []
        },
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}
