{
    "disease_id": "DOID:0112197",
    "recommended_name": {
        "id": "DOID:0112197",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112197",
        "name": "spondyloepimetaphyseal dysplasia with joint laxity",
        "description": "A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility."
    },
    "synonyms": [
        {
            "id": "DOID:0112197",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112197",
            "name": "SEMDJL",
            "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": "DOID:0112198",
            "label": "spondyloepimetaphyseal dysplasia with joint laxity type 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112199",
            "label": "spondyloepimetaphyseal dysplasia with joint laxity type 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112200",
            "label": "spondyloepimetaphyseal dysplasia with joint laxity type 3",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0112198",
        "DOID:0112197",
        "DOID:0112200",
        "DOID:0112199"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112197",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112197",
            "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": "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"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112197"
}