{
    "disease_id": "DOID:10595",
    "recommended_name": {
        "id": "DOID:10595",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:10595",
        "name": "Charcot-Marie-Tooth disease",
        "description": "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm."
    },
    "synonyms": [
        {
            "id": "DOID:10595",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10595",
            "name": "CMT - Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "Charcot-Marie-Tooth disease type 1A",
            "description": "Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves . Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication ) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications."
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "HMSN1A",
            "description": ""
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "Charcot-Marie-Tooth neuropathy, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "CMT 1A",
            "description": ""
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "Charcot Marie Tooth disease type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "CMT1A",
            "description": ""
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "Hmsn1A",
            "description": ""
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 1A; CMT1A",
            "description": ""
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "HMSN 1A",
            "description": ""
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "hereditary motor and sensory neuropathy 1A",
            "description": ""
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "microduplication 17p12",
            "description": ""
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "Charcot-Marie-Tooth neuropathy type 1A",
            "description": ""
        },
        {
            "id": "MIM:118220",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/118220",
            "name": "Charcot-Marie-Tooth disease 1A",
            "description": "Charcot-Marie-Tooth disease 1A"
        }
    ]
}