{
    "disease_id": "DOID:0112198",
    "recommended_name": {
        "id": "DOID:0112198",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112198",
        "name": "spondyloepimetaphyseal dysplasia with joint laxity type 1",
        "description": "A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33."
    },
    "synonyms": [
        {
            "id": "DOID:0112198",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112198",
            "name": "SEMDJL1",
            "description": ""
        },
        {
            "id": "DOID:0112198",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112198",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures",
            "description": ""
        },
        {
            "id": "MONDO:0010075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010075",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures",
            "description": "Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene."
        },
        {
            "id": "MONDO:0010075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010075",
            "name": "SEMDJL",
            "description": ""
        },
        {
            "id": "MONDO:0010075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010075",
            "name": "B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity",
            "description": ""
        },
        {
            "id": "MONDO:0010075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010075",
            "name": "SEMDJL1",
            "description": ""
        },
        {
            "id": "MONDO:0010075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010075",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6",
            "description": ""
        },
        {
            "id": "MONDO:0010075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010075",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type",
            "description": ""
        },
        {
            "id": "MONDO:0010075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010075",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures",
            "description": ""
        },
        {
            "id": "MIM:271640",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/271640",
            "name": "Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures",
            "description": "Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112198"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112198",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112198",
            "categories": []
        },
        {
            "id": "MONDO:0010075",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010075",
            "categories": []
        },
        {
            "id": "MIM:271640",
            "database": "MIM",
            "url": "https://www.omim.org/entry/271640",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91Z92-1",
            "uniprot_ac": "Q91Z92",
            "uniprot_id": "B3GT6_MOUSE",
            "refseq_ac": "NP_536693",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-1,3-galactosyltransferase 6",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.134",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,3-GalTase 6",
                    "type": "synonym"
                },
                {
                    "name": "Beta3Gal-T6",
                    "type": "synonym"
                },
                {
                    "name": "Beta3GalT6",
                    "type": "synonym"
                },
                {
                    "name": "GAG GalTII",
                    "type": "synonym"
                },
                {
                    "name": "Galactosyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "Galactosylxylosylprotein 3-beta-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,3-GalTase 6",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,3-galactosyltransferase 6 precursor",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,3-galactosyltransferase 6",
                    "type": "synonym"
                },
                {
                    "name": "beta3Gal-T6",
                    "type": "synonym"
                },
                {
                    "name": "beta3GalT6",
                    "type": "synonym"
                },
                {
                    "name": "galactosyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "galactosylxylosylprotein 3-beta-galactosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B3galt6",
                    "type": "recommended"
                },
                {
                    "name": "B3galt6",
                    "type": "synonym"
                },
                {
                    "name": "GalTII",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91Z92-1",
            "evidence": [
                {
                    "id": "0112198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112198"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96L58-1",
            "uniprot_ac": "Q96L58",
            "uniprot_id": "B3GT6_HUMAN",
            "refseq_ac": "NP_542172",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-1,3-galactosyltransferase 6",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.134",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,3-GalTase 6",
                    "type": "synonym"
                },
                {
                    "name": "Beta3Gal-T6",
                    "type": "synonym"
                },
                {
                    "name": "Beta3GalT6",
                    "type": "synonym"
                },
                {
                    "name": "GAG GalTII",
                    "type": "synonym"
                },
                {
                    "name": "Galactosyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "Galactosylxylosylprotein 3-beta-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal:betaGal beta 1,3-galactosyltransferase 6",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,3-GalTase 6",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,3-galactosyltransferase 6 precursor",
                    "type": "synonym"
                },
                {
                    "name": "beta3Gal-T6",
                    "type": "synonym"
                },
                {
                    "name": "galactosyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "galactosylxylosylprotein 3-beta-galactosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B3GALT6",
                    "type": "recommended"
                },
                {
                    "name": "ALGAZ",
                    "type": "synonym"
                },
                {
                    "name": "B3GALT6",
                    "type": "synonym"
                },
                {
                    "name": "EDSP2",
                    "type": "synonym"
                },
                {
                    "name": "EDSSPD2",
                    "type": "synonym"
                },
                {
                    "name": "SEMDJL1",
                    "type": "synonym"
                },
                {
                    "name": "beta3GalT6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96L58-1",
            "evidence": [
                {
                    "id": "271640",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/271640"
                },
                {
                    "id": "B3GALT6",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/B3GALT6/#!details"
                },
                {
                    "id": "0112198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112198"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZQC1-1",
            "uniprot_ac": "D3ZQC1",
            "uniprot_id": "D3ZQC1_RAT",
            "refseq_ac": "NP_001100169",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal:betaGal beta 1,3-galactosyltransferase 6",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,3-galactosyltransferase 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B3galt6",
                    "type": "recommended"
                },
                {
                    "name": "B3galt6",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZQC1-1",
            "evidence": [
                {
                    "id": "0112198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112198"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z7G9-1",
            "uniprot_ac": "A1Z7G9",
            "uniprot_id": "A1Z7G9_DROME",
            "refseq_ac": "NP_610399",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG8734-PA",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,3-Galactosyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "beta3GalTII-PA",
                    "type": "synonym"
                },
                {
                    "name": "galactosyltransferase II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "beta3GalTII",
                    "type": "recommended"
                },
                {
                    "name": "CG8734",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8734",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8734",
                    "type": "synonym"
                },
                {
                    "name": "GalTII",
                    "type": "synonym"
                },
                {
                    "name": "beta3GalTII",
                    "type": "synonym"
                },
                {
                    "name": "dGAGbeta3GalTII",
                    "type": "synonym"
                },
                {
                    "name": "dbeta3GalTII",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z7G9-1",
            "evidence": [
                {
                    "id": "0112198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112198"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112198"
}