{
    "disease_id": "DOID:0080738",
    "recommended_name": {
        "id": "DOID:0080738",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080738",
        "name": "Ehlers-Danlos syndrome spondylodysplastic type 1",
        "description": "An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35."
    },
    "synonyms": [
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "EDSSPD1",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "Ehlers-Danlos syndrome with Short stature and Limb anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "Ehlers-Danlos syndrome, progeroid type 1",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "Ehlers-Danlos syndrome, progeroid type, 1",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "PDS, defective biosynthesis of",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "XGPT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "dermatan sulfate proteoglycan",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "dermatan sulphate proteoglycan",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "galactosyltransferase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "proteodermatan sulfate, defective biosynthesis of",
            "description": ""
        },
        {
            "id": "MONDO:0020682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "name": "xylosylprotein 4-Beta-galactosyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MIM:130070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/130070",
            "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1",
            "description": "Ehlers-Danlos syndrome, spondylodysplastic type, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080738"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080738",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080738",
            "categories": []
        },
        {
            "id": "MONDO:0020682",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020682",
            "categories": []
        },
        {
            "id": "MIM:130070",
            "database": "MIM",
            "url": "https://www.omim.org/entry/130070",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9UBV7-1",
            "uniprot_ac": "Q9UBV7",
            "uniprot_id": "B4GT7_HUMAN",
            "refseq_ac": "NP_009186",
            "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-galactosyltransferase 7",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.133",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,4-GalTase 7",
                    "type": "synonym"
                },
                {
                    "name": "Beta4Gal-T7",
                    "type": "synonym"
                },
                {
                    "name": "Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose:beta-xylose beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "XGPT",
                    "type": "synonym"
                },
                {
                    "name": "XGalT-1",
                    "type": "synonym"
                },
                {
                    "name": "Xylosylprotein 4-beta-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Xylosylprotein beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "b4Gal-T7",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-GalTase 7",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-galactosyltransferase 7",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-galactosyltransferase VII",
                    "type": "synonym"
                },
                {
                    "name": "beta4Gal-T7",
                    "type": "synonym"
                },
                {
                    "name": "beta4GalT-VII",
                    "type": "synonym"
                },
                {
                    "name": "galactosyltransferase I",
                    "type": "synonym"
                },
                {
                    "name": "proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I",
                    "type": "synonym"
                },
                {
                    "name": "xylosylprotein 4-beta-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7",
                    "type": "synonym"
                },
                {
                    "name": "xylosylprotein beta-1,4-galactosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B4GALT7",
                    "type": "recommended"
                },
                {
                    "name": "B4GALT7",
                    "type": "synonym"
                },
                {
                    "name": "EDSP1",
                    "type": "synonym"
                },
                {
                    "name": "EDSSLA",
                    "type": "synonym"
                },
                {
                    "name": "EDSSPD1",
                    "type": "synonym"
                },
                {
                    "name": "PRO1478",
                    "type": "synonym"
                },
                {
                    "name": "XGALT1",
                    "type": "synonym"
                },
                {
                    "name": "XGPT1",
                    "type": "synonym"
                },
                {
                    "name": "XGPT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBV7-1",
            "evidence": [
                {
                    "id": "11285",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/11285#disease"
                },
                {
                    "id": "130070",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/130070"
                },
                {
                    "id": "B4GALT7",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/B4GALT7/#!details"
                },
                {
                    "id": "0080738",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080738"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R087-1",
            "uniprot_ac": "Q8R087",
            "uniprot_id": "B4GT7_MOUSE",
            "refseq_ac": "NP_001298066",
            "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-galactosyltransferase 7",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.133",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,4-GalTase 7",
                    "type": "synonym"
                },
                {
                    "name": "Beta4Gal-T7",
                    "type": "synonym"
                },
                {
                    "name": "Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose:beta-xylose beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "XGPT",
                    "type": "synonym"
                },
                {
                    "name": "XGalT-1",
                    "type": "synonym"
                },
                {
                    "name": "Xylosylprotein 4-beta-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Xylosylprotein beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "b4Gal-T7",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-GalTase 7",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-galactosyltransferase 7 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "beta4Gal-T7",
                    "type": "synonym"
                },
                {
                    "name": "proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I",
                    "type": "synonym"
                },
                {
                    "name": "xylosylprotein 4-beta-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "xylosylprotein beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "xylosylprotein beta1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B4galt7",
                    "type": "recommended"
                },
                {
                    "name": "B4galt7",
                    "type": "synonym"
                },
                {
                    "name": "XGPT",
                    "type": "synonym"
                },
                {
                    "name": "XGalT-1",
                    "type": "synonym"
                },
                {
                    "name": "Xgalt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R087-1",
            "evidence": [
                {
                    "id": "0080738",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080738"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K4C0-1",
            "uniprot_ac": "A0A0G2K4C0",
            "uniprot_id": "A0A0G2K4C0_RAT",
            "refseq_ac": "XP_008769723",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-1,4-galactosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,4-GalTase",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-galactosyltransferase 7 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B4galt7",
                    "type": "recommended"
                },
                {
                    "name": "B4galt7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K4C0-1",
            "evidence": [
                {
                    "id": "0080738",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080738"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VBZ9-1",
            "uniprot_ac": "Q9VBZ9",
            "uniprot_id": "B4GT7_DROME",
            "refseq_ac": "NP_651319",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-1,4-galactosyltransferase 7",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.133",
                    "type": "synonym"
                },
                {
                    "name": "CG11780-PA",
                    "type": "synonym"
                },
                {
                    "name": "Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I",
                    "type": "synonym"
                },
                {
                    "name": "Xylosylprotein beta 4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,-4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "beta-4-galactosyltransferase 7",
                    "type": "synonym"
                },
                {
                    "name": "beta1,4-Galactosyltransferase-7",
                    "type": "synonym"
                },
                {
                    "name": "beta4GalT7-PA",
                    "type": "synonym"
                },
                {
                    "name": "glycosaminoglycan galactosyltransferase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "beta4GalT7",
                    "type": "recommended"
                },
                {
                    "name": "CG11780",
                    "type": "synonym"
                },
                {
                    "name": "Dbeta4GalT7",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11780",
                    "type": "synonym"
                },
                {
                    "name": "GalTI",
                    "type": "synonym"
                },
                {
                    "name": "GalT",
                    "type": "synonym"
                },
                {
                    "name": "beta-4GalT7",
                    "type": "synonym"
                },
                {
                    "name": "beta4Gal-T7",
                    "type": "synonym"
                },
                {
                    "name": "beta4GalT7",
                    "type": "synonym"
                },
                {
                    "name": "beta4GalTI",
                    "type": "synonym"
                },
                {
                    "name": "betaGalT7",
                    "type": "synonym"
                },
                {
                    "name": "dGAGbeta4GalTI",
                    "type": "synonym"
                },
                {
                    "name": "dbeta4GalT7",
                    "type": "synonym"
                },
                {
                    "name": "dbeta4GalTI",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VBZ9-1",
            "evidence": [
                {
                    "id": "0080738",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080738"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080738"
}