{
    "disease_id": "DOID:0110206",
    "recommended_name": {
        "id": "DOID:0110206",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110206",
        "name": "Charcot-Marie-Tooth disease dominant intermediate F",
        "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28."
    },
    "synonyms": [
        {
            "id": "DOID:0110206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110206",
            "name": "CMTDIF",
            "description": ""
        },
        {
            "id": "DOID:0110206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110206",
            "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type F",
            "description": ""
        },
        {
            "id": "MONDO:0014074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "name": "Charcot-Marie-Tooth disease dominant intermediate F",
            "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range."
        },
        {
            "id": "MONDO:0014074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "name": "CMTDIF",
            "description": ""
        },
        {
            "id": "MONDO:0014074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "name": "Charcot-Marie-Tooth disease dominant intermediate type F",
            "description": ""
        },
        {
            "id": "MONDO:0014074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "name": "Charcot-Marie-Tooth disease, dominant Intermediate type F",
            "description": ""
        },
        {
            "id": "MONDO:0014074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type F",
            "description": ""
        },
        {
            "id": "MONDO:0014074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate F",
            "description": ""
        },
        {
            "id": "MONDO:0014074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "name": "DI-CMTF",
            "description": ""
        },
        {
            "id": "MONDO:0014074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "name": "GNB4-related intermediate Charcot-Marie-Tooth neuropathy",
            "description": ""
        },
        {
            "id": "MIM:615185",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615185",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate F",
            "description": "Charcot-Marie-Tooth disease, dominant intermediate F"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110206"
    ],
    "unlinked_id_list": []
}