{
    "disease_id": "DOID:0110809",
    "recommended_name": {
        "id": "DOID:0110809",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110809",
        "name": "hereditary spastic paraplegia 57",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110809",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110809",
            "name": "SPG57",
            "description": ""
        },
        {
            "id": "DOID:0110809",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110809",
            "name": "autosomal recessive spastic paraplegia 57",
            "description": ""
        },
        {
            "id": "DOID:0110809",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110809",
            "name": "autosomal recessive spastic paraplegia type 57",
            "description": ""
        },
        {
            "id": "MONDO:0014295",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014295",
            "name": "hereditary spastic paraplegia 57",
            "description": "An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function."
        },
        {
            "id": "MONDO:0014295",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014295",
            "name": "SPG57",
            "description": ""
        },
        {
            "id": "MONDO:0014295",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014295",
            "name": "TFG hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014295",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014295",
            "name": "autosomal recessive spastic paraplegia type 57",
            "description": ""
        },
        {
            "id": "MONDO:0014295",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014295",
            "name": "hereditary spastic paraplegia caused by mutation in TFG",
            "description": ""
        },
        {
            "id": "MONDO:0014295",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014295",
            "name": "hereditary spastic paraplegia type 57",
            "description": ""
        },
        {
            "id": "MONDO:0014295",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014295",
            "name": "spastic paraplegia due to partial TFG deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014295",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014295",
            "name": "spastic paraplegia 57, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:615658",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615658",
            "name": "Spastic paraplegia 57, autosomal recessive",
            "description": "Spastic paraplegia 57, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110809"
    ],
    "unlinked_id_list": []
}