{
    "disease_id": "DOID:0090068",
    "recommended_name": {
        "id": "DOID:0090068",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090068",
        "name": "giant axonal neuropathy 1",
        "description": "An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "giant axonal neuropathy 1",
            "description": "Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy."
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "GAN1",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "giant axonal neuropathy caused by mutation in gan",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "giant axonal neuropathy caused by mutation in GAN",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "giant axonal neuropathy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "giant axonal neuropathy 1, autosomal recessive; GAN1",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "gan",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "neuropathy, giant axonal",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "GAN giant axonal neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "gan giant axonal neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0009749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009749",
            "name": "giant axonal neuropathy 1, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:256850",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256850",
            "name": "Giant axonal neuropathy 1, autosomal recessive",
            "description": "Giant axonal neuropathy 1, autosomal recessive"
        }
    ]
}