{
    "disease_id": "DOID:0090069", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012411", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012411", 
            "name": "HMSN2 with giant axons"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012411", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012411", 
            "name": "giant axonal neuropathy 2, autosomal dominant; GAN2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012411", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012411", 
            "name": "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012411", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012411", 
            "name": "GAN2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012411", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012411", 
            "name": "DCAF8 giant axonal neuropathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012411", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012411", 
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012411", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012411", 
            "name": "CMT2 with giant axons"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012411", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012411", 
            "name": "giant axonal neuropathy caused by mutation in DCAF8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012411", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012411", 
            "name": "giant axonal neuropathy 2, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012411", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012411", 
            "name": "giant axonal neuropathy type 2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090069", 
        "description": "An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090069", 
        "name": "giant axonal neuropathy 2"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090069#disease-associations", 
            "id": "0090069", 
            "database": "Alliance of Genome Resources"
        }
    ]
}