{
    "disease_id": "DOID:0110170",
    "recommended_name": {
        "id": "DOID:0110170",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110170",
        "name": "Charcot-Marie-Tooth disease axonal type 2Q",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14."
    },
    "synonyms": [
        {
            "id": "DOID:0110170",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110170",
            "name": "CMT2Q",
            "description": ""
        },
        {
            "id": "DOID:0110170",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110170",
            "name": "Charcot-Marie-Tooth neuropathy type 2Q",
            "description": ""
        },
        {
            "id": "DOID:0110170",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110170",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2Q",
            "description": ""
        },
        {
            "id": "DOID:0110170",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110170",
            "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "Charcot-Marie-Tooth disease axonal type 2Q",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment."
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "Charcot-Marie-Tooth neuropathy, type 2Q",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2Q",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "Charcot-Marie-Tooth disease caused by mutation in DHTKD1",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "DHTKD1 Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2Q; CMT2Q",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2Q",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "Charcot-Marie-Tooth disease type 2Q",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "CMT2Q",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "Charcot-Marie-Tooth neuropathy type 2Q",
            "description": ""
        },
        {
            "id": "MIM:615025",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615025",
            "name": "Charcot-Marie-Tooth disease 2Q",
            "description": "Charcot-Marie-Tooth disease 2Q"
        }
    ]
}