{
    "disease_id": "DOID:0110193",
    "recommended_name": {
        "id": "DOID:0110193",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110193",
        "name": "Charcot-Marie-Tooth disease type 4F",
        "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110193",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110193",
            "name": "CMT4F",
            "description": ""
        },
        {
            "id": "MONDO:0013959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "name": "Charcot-Marie-Tooth disease type 4F",
            "description": "Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones."
        },
        {
            "id": "MONDO:0013959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "name": "CMT4F",
            "description": ""
        },
        {
            "id": "MONDO:0013959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in PRX",
            "description": ""
        },
        {
            "id": "MONDO:0013959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in Prx",
            "description": ""
        },
        {
            "id": "MONDO:0013959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "name": "Charcot-Marie-Tooth disease, type 4F",
            "description": ""
        },
        {
            "id": "MONDO:0013959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "name": "PRX Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "name": "Prx Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013959",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 4F",
            "description": ""
        },
        {
            "id": "MIM:614895",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614895",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 4F",
            "description": "Charcot-Marie-Tooth disease, demyelinating, type 4F"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110193"
    ],
    "unlinked_id_list": []
}