{
    "disease_id": "DOID:0110197",
    "recommended_name": {
        "id": "DOID:0110197",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110197",
        "name": "Charcot-Marie-Tooth disease dominant intermediate B",
        "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2)."
    },
    "synonyms": [
        {
            "id": "DOID:0110197",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110197",
            "name": "CMTDI1",
            "description": ""
        },
        {
            "id": "DOID:0110197",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110197",
            "name": "CMTDIB",
            "description": ""
        },
        {
            "id": "DOID:0110197",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110197",
            "name": "DI-CMTB",
            "description": ""
        },
        {
            "id": "DOID:0110197",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110197",
            "name": "Charcot-Marie-Tooth neuropathy dominant intermediate B",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "Charcot-Marie-Tooth disease dominant intermediate B",
            "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to 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, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts."
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "CMTDI1",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "CMTDIB",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "Charcot-Marie-Tooth disease caused by mutation in DNM2",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "Charcot-Marie-Tooth disease dominant intermediate type B",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "Charcot-Marie-Tooth disease, axonal type 2M",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "Charcot-Marie-Tooth disease, dominant Intermediate type B",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "DI-CMTB",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "DNM2 Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate B",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "DNM2-related intermediate Charcot-Marie-Tooth neuropathy",
            "description": ""
        },
        {
            "id": "MIM:606482",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606482",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate B",
            "description": "Charcot-Marie-Tooth disease, dominant intermediate B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110197"
    ],
    "unlinked_id_list": []
}