{
    "disease_id": "DOID:0110798",
    "recommended_name": {
        "id": "DOID:0110798",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110798",
        "name": "hereditary spastic paraplegia 46",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p."
    },
    "synonyms": [
        {
            "id": "DOID:0110798",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110798",
            "name": "SPG46",
            "description": ""
        },
        {
            "id": "DOID:0110798",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110798",
            "name": "autosomal recessive spastic paraplegia 46",
            "description": ""
        },
        {
            "id": "DOID:0110798",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110798",
            "name": "autosomal recessive spastic paraplegia type 46",
            "description": ""
        },
        {
            "id": "MONDO:0013737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013737",
            "name": "hereditary spastic paraplegia 46",
            "description": "A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase."
        },
        {
            "id": "MONDO:0013737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013737",
            "name": "GBA2 autosomal recessive complex spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0013737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013737",
            "name": "SPG46",
            "description": ""
        },
        {
            "id": "MONDO:0013737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013737",
            "name": "autosomal recessive complex spastic paraplegia caused by mutation in GBA2",
            "description": ""
        },
        {
            "id": "MONDO:0013737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013737",
            "name": "autosomal recessive spastic paraplegia type 46",
            "description": ""
        },
        {
            "id": "MONDO:0013737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013737",
            "name": "hereditary spastic paraplegia 46",
            "description": ""
        },
        {
            "id": "MONDO:0013737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013737",
            "name": "hereditary spastic paraplegia type 46",
            "description": ""
        },
        {
            "id": "MONDO:0013737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013737",
            "name": "spastic paraplegia 46, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:614409",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614409",
            "name": "Spastic paraplegia 46, autosomal recessive",
            "description": "Spastic paraplegia 46, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110798"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110798",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110798",
            "categories": []
        },
        {
            "id": "MONDO:0013737",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013737",
            "categories": []
        },
        {
            "id": "MIM:614409",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614409",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F5W0-1",
            "uniprot_ac": "E7F5W0",
            "uniprot_id": "E7F5W0_DANRE",
            "refseq_ac": "XP_005172389",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Non-lysosomal glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "NLGase",
                    "type": "synonym"
                },
                {
                    "name": "non-lysosomal glucosylceramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gba2",
                    "type": "recommended"
                },
                {
                    "name": "gba2",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F5W0-1",
            "evidence": [
                {
                    "id": "0110798",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110798"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q69ZF3-1",
            "uniprot_ac": "Q69ZF3",
            "uniprot_id": "GBA2_MOUSE",
            "refseq_ac": "NP_766280",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Non-lysosomal glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.46",
                    "type": "synonym"
                },
                {
                    "name": "Beta-glucocerebrosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "Beta-glucosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "Bile acid beta-glucosidase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "Bile acid glucosyl transferase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol glucosyltransferase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "Cholesteryl-beta-glucosidase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "Glucosylceramidase 2",
                    "type": "synonym"
                },
                {
                    "name": "NLGase",
                    "type": "synonym"
                },
                {
                    "name": "Non-lysosomal cholesterol glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Non-lysosomal galactosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "Non-lysosomal glycosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "beta-glucocerebrosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "beta-glucosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "bile acid beta-glucosidase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "bile acid glucosyl transferase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol glucosyltransferase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "cholesteryl-beta-glucosidase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase, beta (bile acid) 2",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramidase 2",
                    "type": "synonym"
                },
                {
                    "name": "non-lysosomal cholesterol glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "non-lysosomal galactosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "non-lysosomal glucosylceramidase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "non-lysosomal glucosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "non-lysosomal glycosylceramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gba2",
                    "type": "recommended"
                },
                {
                    "name": "F630034E04",
                    "type": "synonym"
                },
                {
                    "name": "Gba2",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1605",
                    "type": "synonym"
                }
            ],
            "record_id": "Q69ZF3-1",
            "evidence": [
                {
                    "id": "0110798",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110798"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HCG7-1",
            "uniprot_ac": "Q9HCG7",
            "uniprot_id": "GBA2_HUMAN",
            "refseq_ac": "NP_001317589",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Non-lysosomal glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.46",
                    "type": "synonym"
                },
                {
                    "name": "Beta-glucocerebrosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "Beta-glucosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "Bile acid beta-glucosidase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "Bile acid glucosyl transferase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol glucosyltransferase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "Cholesteryl-beta-glucosidase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "Glucosylceramidase 2",
                    "type": "synonym"
                },
                {
                    "name": "NLGase",
                    "type": "synonym"
                },
                {
                    "name": "Non-lysosomal cholesterol glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Non-lysosomal galactosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "Non-lysosomal glycosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "beta-glucocerebrosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "bile acid beta-glucosidase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "bile acid glucosyl transferase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol glucosyltransferase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "cholesteryl-beta-glucosidase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase, beta (bile acid) 2",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramidase 2",
                    "type": "synonym"
                },
                {
                    "name": "non-lysosomal cholesterol glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "non-lysosomal galactosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "non-lysosomal glucosylceramidase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "non-lysosomal glucosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "non-lysosomal glycosylceramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GBA2",
                    "type": "recommended"
                },
                {
                    "name": "AD035",
                    "type": "synonym"
                },
                {
                    "name": "GBA2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1605",
                    "type": "synonym"
                },
                {
                    "name": "NLGase",
                    "type": "synonym"
                },
                {
                    "name": "SPG46",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HCG7-1",
            "evidence": [
                {
                    "id": "614409",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614409"
                },
                {
                    "id": "0110798",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110798"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5M868-1",
            "uniprot_ac": "Q5M868",
            "uniprot_id": "GBA2_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Non-lysosomal glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.46",
                    "type": "synonym"
                },
                {
                    "name": "Beta-glucocerebrosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "Beta-glucosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "Bile acid beta-glucosidase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "Bile acid glucosyl transferase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol glucosyltransferase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "Cholesteryl-beta-glucosidase GBA2",
                    "type": "synonym"
                },
                {
                    "name": "Glucosylceramidase 2",
                    "type": "synonym"
                },
                {
                    "name": "NLGase",
                    "type": "synonym"
                },
                {
                    "name": "Non-lysosomal cholesterol glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Non-lysosomal galactosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "Non-lysosomal glycosylceramidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gba2",
                    "type": "recommended"
                }
            ],
            "record_id": "Q5M868-1",
            "evidence": [
                {
                    "id": "0110798",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110798"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KT91-1",
            "uniprot_ac": "Q7KT91",
            "uniprot_id": "C3390_DROME",
            "refseq_ac": "NP_788055",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Non-lysosomal glucosylceramidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.45",
                    "type": "synonym"
                },
                {
                    "name": "CG33090-PB",
                    "type": "synonym"
                },
                {
                    "name": "NLGase",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG7469",
                    "type": "recommended"
                },
                {
                    "name": "Dmel\\CG33090",
                    "type": "recommended"
                },
                {
                    "name": "BG:DS01068.2",
                    "type": "synonym"
                },
                {
                    "name": "CG15287",
                    "type": "synonym"
                },
                {
                    "name": "CG31837",
                    "type": "synonym"
                },
                {
                    "name": "CG33090",
                    "type": "synonym"
                },
                {
                    "name": "CG7469",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33090",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33090",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KT91-1",
            "evidence": [
                {
                    "id": "0110798",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110798"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110798"
}