{
    "disease_id": "DOID:0110777",
    "recommended_name": {
        "id": "DOID:0110777",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110777",
        "name": "hereditary spastic paraplegia 26",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110777",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110777",
            "name": "GM2 synthase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110777",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110777",
            "name": "SPG26",
            "description": ""
        },
        {
            "id": "DOID:0110777",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110777",
            "name": "autosomal recessive spastic paraplegia 26",
            "description": ""
        },
        {
            "id": "DOID:0110777",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110777",
            "name": "autosomal recessive spastic paraplegia type 26",
            "description": ""
        },
        {
            "id": "MONDO:0012213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012213",
            "name": "hereditary spastic paraplegia 26",
            "description": "A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1."
        },
        {
            "id": "MONDO:0012213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012213",
            "name": "GM2 synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012213",
            "name": "SPG26",
            "description": ""
        },
        {
            "id": "MONDO:0012213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012213",
            "name": "autosomal recessive spastic paraplegia type 26",
            "description": ""
        },
        {
            "id": "MONDO:0012213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012213",
            "name": "hereditary spastic paraplegia type 26",
            "description": ""
        },
        {
            "id": "MONDO:0012213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012213",
            "name": "spastic paraplegia 26",
            "description": ""
        },
        {
            "id": "MONDO:0012213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012213",
            "name": "spastic paraplegia 26, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:609195",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609195",
            "name": "Spastic paraplegia 26, autosomal recessive",
            "description": "Spastic paraplegia 26, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110777"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110777",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110777",
            "categories": []
        },
        {
            "id": "MONDO:0012213",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012213",
            "categories": []
        },
        {
            "id": "MIM:609195",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609195",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BDH6-1",
            "uniprot_ac": "A0A8M2BDH6",
            "uniprot_id": "A0A8M2BDH6_DANRE",
            "refseq_ac": "XP_005166146",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-1,4 N-acetylgalactosaminyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "beta-1,4 N-acetylgalactosaminyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "b4galnt1b",
                    "type": "recommended"
                },
                {
                    "name": "b4galnt1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BDH6-1",
            "evidence": [
                {
                    "id": "0110777",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110777"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q09200-1",
            "uniprot_ac": "Q09200",
            "uniprot_id": "B4GN1_MOUSE",
            "refseq_ac": "NP_032106",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-1,4 N-acetylgalactosaminyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "(N-acetylneuraminyl)-galactosylglucosylceramide",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.92",
                    "type": "synonym"
                },
                {
                    "name": "GM2/GD2 synthase",
                    "type": "synonym"
                },
                {
                    "name": "GalNAc-T",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)- galactosylglucosylceramide-beta-1, 4-N-acetylgalactosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4 N-acetylgalactosaminyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "beta1,4GalNAC-T",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B4galnt1",
                    "type": "recommended"
                },
                {
                    "name": "4933429D13Rik",
                    "type": "synonym"
                },
                {
                    "name": "B4galnt1",
                    "type": "synonym"
                },
                {
                    "name": "Gal-NAc-T",
                    "type": "synonym"
                },
                {
                    "name": "GalNAc-T",
                    "type": "synonym"
                },
                {
                    "name": "GalNAcT",
                    "type": "synonym"
                },
                {
                    "name": "Galgt1",
                    "type": "synonym"
                },
                {
                    "name": "Galgt",
                    "type": "synonym"
                },
                {
                    "name": "Ggm-2",
                    "type": "synonym"
                },
                {
                    "name": "Ggm2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q09200-1",
            "evidence": [
                {
                    "id": "0110777",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110777"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00973-1",
            "uniprot_ac": "Q00973",
            "uniprot_id": "B4GN1_HUMAN",
            "refseq_ac": "NP_001263397",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-1,4 N-acetylgalactosaminyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "(N-acetylneuraminyl)-galactosylglucosylceramide",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.92",
                    "type": "synonym"
                },
                {
                    "name": "GD2 synthase, GM2 synthase",
                    "type": "synonym"
                },
                {
                    "name": "GM2/GD2 synthase",
                    "type": "synonym"
                },
                {
                    "name": "GalNAc-T",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)- galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-N-acetyl-galactosaminyl transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "beta1,4GalNAc-T",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B4GALNT1",
                    "type": "recommended"
                },
                {
                    "name": "B4GALNT1",
                    "type": "synonym"
                },
                {
                    "name": "GALGT",
                    "type": "synonym"
                },
                {
                    "name": "GALNACT",
                    "type": "synonym"
                },
                {
                    "name": "GalNAc-T",
                    "type": "synonym"
                },
                {
                    "name": "SIAT2",
                    "type": "synonym"
                },
                {
                    "name": "SPG26",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00973-1",
            "evidence": [
                {
                    "id": "0012213",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012213"
                },
                {
                    "id": "609195",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609195"
                },
                {
                    "id": "B4GALNT1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/B4GALNT1/#!details"
                },
                {
                    "id": "0110777",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110777"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q10468-1",
            "uniprot_ac": "Q10468",
            "uniprot_id": "B4GN1_RAT",
            "refseq_ac": "NP_074051",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-1,4 N-acetylgalactosaminyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "(N-acetylneuraminyl)-galactosylglucosylceramide",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.92",
                    "type": "synonym"
                },
                {
                    "name": "GA2 synthase",
                    "type": "synonym"
                },
                {
                    "name": "GD2 synthase",
                    "type": "synonym"
                },
                {
                    "name": "GM2 synthase",
                    "type": "synonym"
                },
                {
                    "name": "GM2/GD2 synthase",
                    "type": "synonym"
                },
                {
                    "name": "GalNAc-T",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)- galactosylglucosylceramide-beta-1, 4-N-acetylgalactosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4 N-acetylgalactosaminyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-4N-acetylgalactosaminyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B4galnt1",
                    "type": "recommended"
                },
                {
                    "name": "B4galnt1",
                    "type": "synonym"
                },
                {
                    "name": "GalNAc-T",
                    "type": "synonym"
                },
                {
                    "name": "Galgt1",
                    "type": "synonym"
                },
                {
                    "name": "Galgt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q10468-1",
            "evidence": [
                {
                    "id": "0110777",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110777"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110777"
}