{
    "disease_id": "DOID:0090068", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009749", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009749", 
            "name": "GAN1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009749", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009749", 
            "name": "giant axonal neuropathy caused by mutation in gan"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009749", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009749", 
            "name": "giant axonal neuropathy type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009749", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009749", 
            "name": "giant axonal neuropathy 1, autosomal recessive; GAN1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009749", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009749", 
            "name": "gan"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009749", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009749", 
            "name": "neuropathy, giant axonal"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009749", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009749", 
            "name": "GAN giant axonal neuropathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009749", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009749", 
            "name": "giant axonal neuropathy 1, autosomal recessive"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090068", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090068", 
        "name": "giant axonal neuropathy 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090068#disease-associations", 
            "id": "0090068", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
