{
    "disease_id": "DOID:0110806",
    "recommended_name": {
        "id": "DOID:0110806",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110806",
        "name": "hereditary spastic paraplegia 54",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110806",
            "name": "SPG54",
            "description": ""
        },
        {
            "id": "DOID:0110806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110806",
            "name": "autosomal recessive spastic paraplegia 54",
            "description": ""
        },
        {
            "id": "DOID:0110806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110806",
            "name": "autosomal recessive spastic paraplegia type 54",
            "description": ""
        },
        {
            "id": "MONDO:0014018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014018",
            "name": "hereditary spastic paraplegia 54",
            "description": "A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2."
        },
        {
            "id": "MONDO:0014018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014018",
            "name": "DDHD2 autosomal recessive complex spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014018",
            "name": "SPG54",
            "description": ""
        },
        {
            "id": "MONDO:0014018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014018",
            "name": "autosomal recessive complex spastic paraplegia caused by mutation in DDHD2",
            "description": ""
        },
        {
            "id": "MONDO:0014018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014018",
            "name": "autosomal recessive spastic paraplegia type 54",
            "description": ""
        },
        {
            "id": "MONDO:0014018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014018",
            "name": "hereditary spastic paraplegia type 54",
            "description": ""
        },
        {
            "id": "MONDO:0014018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014018",
            "name": "spastic paraplegia 54, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:615033",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615033",
            "name": "Spastic paraplegia 54, autosomal recessive",
            "description": "Spastic paraplegia 54, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110806"
    ],
    "unlinked_id_list": []
}