{
    "disease_id": "DOID:0050526",
    "recommended_name": {
        "id": "DOID:0050526",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050526",
        "name": "Gamstorp-Wohlfart syndrome",
        "description": "A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs."
    },
    "synonyms": [
        {
            "id": "DOID:0050526",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050526",
            "name": "autosomal recessive neuromyotonia and axonal neuropathy",
            "description": ""
        },
        {
            "id": "DOID:0050526",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050526",
            "name": "myokymia, myotonia and muscle wasting",
            "description": ""
        },
        {
            "id": "MONDO:0007646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007646",
            "name": "Gamstorp-Wohlfart syndrome",
            "description": "A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment."
        },
        {
            "id": "MONDO:0007646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007646",
            "name": "ARAN-NM",
            "description": ""
        },
        {
            "id": "MONDO:0007646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007646",
            "name": "ARCMT2-NM",
            "description": ""
        },
        {
            "id": "MONDO:0007646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007646",
            "name": "Gamstorp-Wohlfart syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007646",
            "name": "autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia",
            "description": ""
        },
        {
            "id": "MONDO:0007646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007646",
            "name": "NMAN",
            "description": ""
        },
        {
            "id": "MONDO:0007646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007646",
            "name": "neuromyotonia and axonal neuropathy, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:137200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/137200",
            "name": "Neuromyotonia and axonal neuropathy, autosomal recessive",
            "description": "Neuromyotonia and axonal neuropathy, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050526"
    ],
    "unlinked_id_list": []
}