{
    "disease_id": "DOID:0070147",
    "recommended_name": {
        "id": "DOID:0070147",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070147",
        "name": "hereditary sensory neuropathy type 2C",
        "description": "A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "DOID:0070147",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070147",
            "name": "HSN2C",
            "description": ""
        },
        {
            "id": "DOID:0070147",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070147",
            "name": "hereditary sensory neuropathy type IIC",
            "description": ""
        },
        {
            "id": "MONDO:0013634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013634",
            "name": "neuropathy, hereditary sensory, type 2C",
            "description": "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene."
        },
        {
            "id": "MONDO:0013634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013634",
            "name": "HSN2C",
            "description": ""
        },
        {
            "id": "MONDO:0013634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013634",
            "name": "KIF1A hereditary sensory and autonomic neuropathy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013634",
            "name": "hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A",
            "description": ""
        },
        {
            "id": "MONDO:0013634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013634",
            "name": "hereditary sensory neuropathy type IIC",
            "description": ""
        },
        {
            "id": "MONDO:0013634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013634",
            "name": "hereditary sensory neuropathy type 2C",
            "description": ""
        },
        {
            "id": "MONDO:0013634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013634",
            "name": "neuropathy, hereditary sensory, type IIC",
            "description": ""
        },
        {
            "id": "MIM:614213",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614213",
            "name": "Neuropathy, hereditary sensory, 2C",
            "description": "Neuropathy, hereditary sensory, 2C"
        }
    ]
}