{
    "disease_id": "DOID:0050813",
    "recommended_name": {
        "id": "DOID:0050813",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050813",
        "name": "spondyloepiphyseal dysplasia with congenital joint dislocations",
        "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints."
    },
    "synonyms": [
        {
            "id": "DOID:0050813",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050813",
            "name": "Humero-spinal dysostosis with congenital heart disease",
            "description": ""
        },
        {
            "id": "DOID:0050813",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050813",
            "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS",
            "description": ""
        },
        {
            "id": "DOID:0050813",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050813",
            "name": "CHST3-Related Skeletal Dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0050813",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050813",
            "name": "Kozlowski Celermajer Tink syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050813",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050813",
            "name": "Omani Type",
            "description": ""
        },
        {
            "id": "DOID:0050813",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050813",
            "name": "Spondyloepiphyseal Dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0050813",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050813",
            "name": "humero-spinal dysostosis",
            "description": ""
        },
        {
            "id": "DOID:0050813",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050813",
            "name": "humerospinal dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "spondyloepiphyseal dysplasia with congenital joint dislocations",
            "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal."
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "spondyloepiphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "CHST3-related skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "Humerospinal dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "SDCD, CHST3 type",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "chondrodysplasia with congenital joint dislocations, CHST3 type",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "chondrodysplasia with multiple dislocations",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "spondyloepiphyseal dysplasia with congenital joint dislocations",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "Gollop Coates syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "SEDCJD",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "bifurcation of distal humerus with oligoectro-syndactyly",
            "description": ""
        },
        {
            "id": "MIM:143095",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/143095",
            "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations",
            "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050813"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050813",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050813",
            "categories": []
        },
        {
            "id": "MONDO:0007738",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "categories": []
        },
        {
            "id": "MIM:143095",
            "database": "MIM",
            "url": "https://www.omim.org/entry/143095",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7LGC8-1",
            "uniprot_ac": "Q7LGC8",
            "uniprot_id": "CHST3_HUMAN",
            "refseq_ac": "NP_004264",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbohydrate sulfotransferase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.17",
                    "type": "synonym"
                },
                {
                    "name": "2.8.2.21",
                    "type": "synonym"
                },
                {
                    "name": "C6ST-1",
                    "type": "synonym"
                },
                {
                    "name": "C6ST",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitin 6-O-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitin 6-sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "GST-0",
                    "type": "synonym"
                },
                {
                    "name": "Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0",
                    "type": "synonym"
                },
                {
                    "name": "carbohydrate (chondroitin 6) sulfotransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "carbohydrate sulfotransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "chondroitin 6 sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "chondroitin 6-O-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHST3",
                    "type": "recommended"
                },
                {
                    "name": "C6ST1",
                    "type": "synonym"
                },
                {
                    "name": "C6ST",
                    "type": "synonym"
                },
                {
                    "name": "CHST3",
                    "type": "synonym"
                },
                {
                    "name": "HSD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7LGC8-1",
            "evidence": [
                {
                    "id": "9469",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/9469#disease"
                },
                {
                    "id": "0007738",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007738"
                },
                {
                    "id": "143095",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/143095"
                },
                {
                    "id": "CHST3",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST3/#!details"
                },
                {
                    "id": "0050813",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050813"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B8A5X2-1",
            "uniprot_ac": "B8A5X2",
            "uniprot_id": "B8A5X2_DANRE",
            "refseq_ac": "NP_001139043",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                },
                {
                    "name": "carbohydrate sulfotransferase 3a precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chst3a",
                    "type": "recommended"
                },
                {
                    "name": "chst3a",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-232k3.6",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A5X2-1",
            "evidence": [
                {
                    "id": "0050813",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050813"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88199-1",
            "uniprot_ac": "O88199",
            "uniprot_id": "CHST3_MOUSE",
            "refseq_ac": "NP_001393954",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbohydrate sulfotransferase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.17",
                    "type": "synonym"
                },
                {
                    "name": "2.8.2.21",
                    "type": "synonym"
                },
                {
                    "name": "C6ST-1",
                    "type": "synonym"
                },
                {
                    "name": "C6ST",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitin 6-O-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitin 6-sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "GST-0",
                    "type": "synonym"
                },
                {
                    "name": "Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0",
                    "type": "synonym"
                },
                {
                    "name": "carbohydrate (chondroitin 6/keratan) sulfotransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "carbohydrate sulfotransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "chondroitin 6-O-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "chondroitin 6-sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chst3",
                    "type": "recommended"
                },
                {
                    "name": "C6ST-1",
                    "type": "synonym"
                },
                {
                    "name": "C6ST",
                    "type": "synonym"
                },
                {
                    "name": "C6st",
                    "type": "synonym"
                },
                {
                    "name": "Chst3",
                    "type": "synonym"
                },
                {
                    "name": "GST-0",
                    "type": "synonym"
                },
                {
                    "name": "Gst0",
                    "type": "synonym"
                }
            ],
            "record_id": "O88199-1",
            "evidence": [
                {
                    "id": "0050813",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050813"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14807-1",
            "uniprot_ac": "Q14807",
            "uniprot_id": "KIF22_HUMAN",
            "refseq_ac": "NP_001243198",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF22",
                    "type": "recommended"
                },
                {
                    "name": "Kinesin-like DNA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like DNA-binding protein pseudogene",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF22 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "oriP binding protein",
                    "type": "synonym"
                },
                {
                    "name": "origin of plasmid DNA replication-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF22",
                    "type": "recommended"
                },
                {
                    "name": "A-328A3.2",
                    "type": "synonym"
                },
                {
                    "name": "KID",
                    "type": "synonym"
                },
                {
                    "name": "KIF22",
                    "type": "synonym"
                },
                {
                    "name": "KNSL4",
                    "type": "synonym"
                },
                {
                    "name": "OBP-1",
                    "type": "synonym"
                },
                {
                    "name": "OBP-2",
                    "type": "synonym"
                },
                {
                    "name": "OBP",
                    "type": "synonym"
                },
                {
                    "name": "SEMDJL2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14807-1",
            "evidence": [
                {
                    "id": "0007738",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007738"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZL2-1",
            "uniprot_ac": "Q9QZL2",
            "uniprot_id": "CHST3_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": "Carbohydrate sulfotransferase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.17",
                    "type": "synonym"
                },
                {
                    "name": "2.8.2.21",
                    "type": "synonym"
                },
                {
                    "name": "C6ST-1",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitin 6-O-sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "GST-0",
                    "type": "synonym"
                },
                {
                    "name": "Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chst3",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9QZL2-1",
            "evidence": [
                {
                    "id": "0050813",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050813"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMC3-1",
            "uniprot_ac": "Q9VMC3",
            "uniprot_id": "Q9VMC3_DROME",
            "refseq_ac": "NP_001285677",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfotransferase domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG31637-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG31637",
                    "type": "recommended"
                },
                {
                    "name": "CG13765",
                    "type": "synonym"
                },
                {
                    "name": "CG31637",
                    "type": "synonym"
                },
                {
                    "name": "CG9551",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31637",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31637",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.107",
                    "type": "synonym"
                },
                {
                    "name": "d6ST1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMC3-1",
            "evidence": [
                {
                    "id": "0050813",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050813"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMC4-1",
            "uniprot_ac": "Q9VMC4",
            "uniprot_id": "Q9VMC4_DROME",
            "refseq_ac": "NP_609042",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfotransferase domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG9550-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG9550",
                    "type": "recommended"
                },
                {
                    "name": "CG9550",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9550",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9550",
                    "type": "synonym"
                },
                {
                    "name": "d6ST2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMC4-1",
            "evidence": [
                {
                    "id": "0050813",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050813"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050813"
}