{
    "disease_id": "DOID:0110199",
    "recommended_name": {
        "id": "DOID:0110199",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110199",
        "name": "Charcot-Marie-Tooth disease dominant intermediate C",
        "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35."
    },
    "synonyms": [
        {
            "id": "DOID:0110199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110199",
            "name": "CMTDIC",
            "description": ""
        },
        {
            "id": "DOID:0110199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110199",
            "name": "DI-CMTC",
            "description": ""
        },
        {
            "id": "DOID:0110199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110199",
            "name": "Charcot-Marie-Tooth neuropathy dominant intermediate C",
            "description": ""
        },
        {
            "id": "DOID:0110199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110199",
            "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type C",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "Charcot-Marie-Tooth disease dominant intermediate C",
            "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs."
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "CMTDIC",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "Charcot-Marie-Tooth disease caused by mutation in YARS",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "Charcot-Marie-Tooth disease dominant intermediate type C",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "Charcot-Marie-Tooth disease, dominant Intermediate type C",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "DI-CMTC",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "YARS Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type C",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate C",
            "description": ""
        },
        {
            "id": "MONDO:0012012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012012",
            "name": "YARS-related intermediate Charcot-Marie-Tooth neuropathy",
            "description": ""
        },
        {
            "id": "MIM:608323",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608323",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate C",
            "description": "Charcot-Marie-Tooth disease, dominant intermediate C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110199"
    ],
    "unlinked_id_list": []
}