{
    "disease_id": "DOID:0090069",
    "recommended_name": {
        "id": "DOID:0090069",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090069",
        "name": "giant axonal neuropathy 2",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "giant axonal neuropathy 2",
            "description": "Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene."
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "HMSN2 with giant axons",
            "description": ""
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "giant axonal neuropathy 2, autosomal dominant; GAN2",
            "description": ""
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons",
            "description": ""
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "GAN2",
            "description": ""
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "DCAF8 giant axonal neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons",
            "description": ""
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "CMT2 with giant axons",
            "description": ""
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "giant axonal neuropathy caused by mutation in DCAF8",
            "description": ""
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "giant axonal neuropathy 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0012411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012411",
            "name": "giant axonal neuropathy type 2",
            "description": ""
        },
        {
            "id": "MIM:610100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610100",
            "name": "Giant axonal neuropathy 2, autosomal dominant",
            "description": "Giant axonal neuropathy 2, autosomal dominant"
        }
    ]
}