{
    "disease_id": "DOID:0110148",
    "recommended_name": {
        "id": "DOID:0110148",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110148",
        "name": "Charcot-Marie-Tooth disease type 1A",
        "description": "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22)."
    },
    "synonyms": [
        {
            "id": "DOID:0110148",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110148",
            "name": "CMT1A",
            "description": ""
        },
        {
            "id": "DOID:0110148",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110148",
            "name": "Charcot-Marie-Tooth neuropathy type 1A",
            "description": ""
        },
        {
            "id": "DOID:0110148",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110148",
            "name": "HMSN1A",
            "description": ""
        },
        {
            "id": "DOID:0110148",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110148",
            "name": "hereditary motor and sensory neuropathy 1A",
            "description": ""
        },
        {
            "id": "DOID:0110148",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110148",
            "name": "microduplication 17p12",
            "description": ""
        },
        {
            "id": "DOID:0110148",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110148",
            "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 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": "CMT1A",
            "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": "Charcot-Marie-Tooth disease, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "Charcot-Marie-Tooth syndrome type 1A",
            "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": "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": "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": "Charcot-Marie-Tooth disease, demyelinating, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0007309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007309",
            "name": "HMSN 1A",
            "description": ""
        },
        {
            "id": "MIM:118220",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/118220",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 1A",
            "description": "Charcot-Marie-Tooth disease, demyelinating, type 1A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110148"
    ],
    "unlinked_id_list": []
}