{
    "disease_id": "DOID:0060462",
    "recommended_name": {
        "id": "DOID:0060462",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060462",
        "name": "Desbuquois dysplasia",
        "description": "An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx."
    },
    "synonyms": [
        {
            "id": "DOID:0060462",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060462",
            "name": "Desbuquois syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060462",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060462",
            "name": "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification",
            "description": ""
        },
        {
            "id": "MONDO:0009629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009629",
            "name": "Desbuquois dysplasia 1",
            "description": "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene."
        },
        {
            "id": "MONDO:0009629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009629",
            "name": "CANT1 Desbuquois dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009629",
            "name": "Desbuquois dysplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0009629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009629",
            "name": "Desbuquois dysplasia caused by mutation in CANT1",
            "description": ""
        },
        {
            "id": "MONDO:0009629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009629",
            "name": "Desbuquois dysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009629",
            "name": "DBQD1",
            "description": ""
        },
        {
            "id": "MONDO:0014343",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014343",
            "name": "Desbuquois dysplasia 2",
            "description": "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene."
        },
        {
            "id": "MONDO:0014343",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014343",
            "name": "Baratela-Scott syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014343",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014343",
            "name": "Desbuquois dysplasia 2",
            "description": ""
        },
        {
            "id": "MONDO:0014343",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014343",
            "name": "Desbuquois dysplasia caused by mutation in XYLT1",
            "description": ""
        },
        {
            "id": "MONDO:0014343",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014343",
            "name": "Desbuquois dysplasia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014343",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014343",
            "name": "XYLT1 Desbuquois dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0014343",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014343",
            "name": "DBQD2",
            "description": ""
        },
        {
            "id": "MIM:251450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251450",
            "name": "Desbuquois dysplasia 1",
            "description": "Desbuquois dysplasia 1"
        },
        {
            "id": "MIM:615777",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615777",
            "name": "Desbuquois dysplasia 2",
            "description": "Desbuquois dysplasia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060462"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060462",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060462",
            "categories": []
        },
        {
            "id": "MONDO:0009629",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009629",
            "categories": []
        },
        {
            "id": "MONDO:0014343",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014343",
            "categories": []
        },
        {
            "id": "MIM:251450",
            "database": "MIM",
            "url": "https://www.omim.org/entry/251450",
            "categories": []
        },
        {
            "id": "MIM:615777",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615777",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AXZ6-1",
            "uniprot_ac": "A0A8M3AXZ6",
            "uniprot_id": "A0A8M3AXZ6_DANRE",
            "refseq_ac": "XP_009304599",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Soluble calcium-activated nucleotidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "Apyrase homolog",
                    "type": "synonym"
                },
                {
                    "name": "soluble calcium-activated nucleotidase 1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cant1b",
                    "type": "recommended"
                },
                {
                    "name": "cant1b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101021",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AXZ6-1",
            "evidence": [
                {
                    "id": "0060462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VCF1-1",
            "uniprot_ac": "Q8VCF1",
            "uniprot_id": "CANT1_MOUSE",
            "refseq_ac": "NP_001020788",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Soluble calcium-activated nucleotidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "Apyrase homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "SCAN-1",
                    "type": "synonym"
                },
                {
                    "name": "apyrase 1, homolog (C. lectularius)",
                    "type": "synonym"
                },
                {
                    "name": "apyrase homolog",
                    "type": "synonym"
                },
                {
                    "name": "soluble calcium-activated nucleotidase 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "soluble calcium-activated nucleotidase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cant1",
                    "type": "recommended"
                },
                {
                    "name": "5830420C20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Apy1h",
                    "type": "synonym"
                },
                {
                    "name": "Cant1",
                    "type": "synonym"
                },
                {
                    "name": "D11Bwg0554e",
                    "type": "synonym"
                },
                {
                    "name": "Entpd8",
                    "type": "synonym"
                },
                {
                    "name": "SCAN-1",
                    "type": "synonym"
                },
                {
                    "name": "Shapy",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VCF1-1",
            "evidence": [
                {
                    "id": "0060462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q811B1-1",
            "uniprot_ac": "Q811B1",
            "uniprot_id": "XYLT1_MOUSE",
            "refseq_ac": "NP_783576",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Xylosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.26",
                    "type": "synonym"
                },
                {
                    "name": "Peptide O-xylosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Xylosyltransferase I",
                    "type": "synonym"
                },
                {
                    "name": "peptide O-xylosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "xylosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "xylosyltransferase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xylt1",
                    "type": "recommended"
                },
                {
                    "name": "8030490L12",
                    "type": "synonym"
                },
                {
                    "name": "Xylt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q811B1-1",
            "evidence": [
                {
                    "id": "0060462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WVQ1-1",
            "uniprot_ac": "Q8WVQ1",
            "uniprot_id": "CANT1_HUMAN",
            "refseq_ac": "NP_001153244",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Soluble calcium-activated nucleotidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "Apyrase homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Putative MAPK-activating protein PM09",
                    "type": "synonym"
                },
                {
                    "name": "Putative NF-kappa-B-activating protein 107",
                    "type": "synonym"
                },
                {
                    "name": "SCAN-1",
                    "type": "synonym"
                },
                {
                    "name": "apyrase 1 homolog (C. lectularius)",
                    "type": "synonym"
                },
                {
                    "name": "apyrase homolog",
                    "type": "synonym"
                },
                {
                    "name": "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification",
                    "type": "synonym"
                },
                {
                    "name": "putative MAPK-activating protein PM09",
                    "type": "synonym"
                },
                {
                    "name": "putative NF-kappa-B-activating protein 107",
                    "type": "synonym"
                },
                {
                    "name": "soluble Ca-activated nucleotidase, isozyme 1",
                    "type": "synonym"
                },
                {
                    "name": "soluble calcium-activated nucleotidase 1",
                    "type": "synonym"
                },
                {
                    "name": "soluble calcium-activated nucleotidase SCAN-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CANT1",
                    "type": "recommended"
                },
                {
                    "name": "CANT1",
                    "type": "synonym"
                },
                {
                    "name": "DBQD1",
                    "type": "synonym"
                },
                {
                    "name": "DBQD",
                    "type": "synonym"
                },
                {
                    "name": "EDM7",
                    "type": "synonym"
                },
                {
                    "name": "SCAN-1",
                    "type": "synonym"
                },
                {
                    "name": "SCAN1",
                    "type": "synonym"
                },
                {
                    "name": "SHAPY",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WVQ1-1",
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                {
                    "id": "251450",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/251450"
                },
                {
                    "id": "0060462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86Y38-1",
            "uniprot_ac": "Q86Y38",
            "uniprot_id": "XYLT1_HUMAN",
            "refseq_ac": "NP_071449",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Xylosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.26",
                    "type": "synonym"
                },
                {
                    "name": "Peptide O-xylosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "XT-I",
                    "type": "synonym"
                },
                {
                    "name": "XylT-I",
                    "type": "synonym"
                },
                {
                    "name": "Xylosyltransferase I",
                    "type": "synonym"
                },
                {
                    "name": "beta-D-xylosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "peptide O-xylosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "xylosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "xylosyltransferase I",
                    "type": "synonym"
                },
                {
                    "name": "xylosyltransferase iota",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "XYLT1",
                    "type": "recommended"
                },
                {
                    "name": "DBQD2",
                    "type": "synonym"
                },
                {
                    "name": "PXYLT1",
                    "type": "synonym"
                },
                {
                    "name": "XT-I",
                    "type": "synonym"
                },
                {
                    "name": "XT1",
                    "type": "synonym"
                },
                {
                    "name": "XTI",
                    "type": "synonym"
                },
                {
                    "name": "XYLT1",
                    "type": "synonym"
                },
                {
                    "name": "XYLTI",
                    "type": "synonym"
                },
                {
                    "name": "xylT-I",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86Y38-1",
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                {
                    "id": "0014343",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014343"
                },
                {
                    "id": "615777",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615777"
                },
                {
                    "id": "XYLT1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/XYLT1/#!details"
                },
                {
                    "id": "0060462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K4Y7-1",
            "uniprot_ac": "Q8K4Y7",
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            "refseq_ac": "NP_653355",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
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                    "name": "Soluble calcium-activated nucleotidase 1",
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                },
                {
                    "name": "Apyrase homolog",
                    "type": "synonym"
                },
                {
                    "name": "SCAN-1",
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                {
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                    "type": "synonym"
                },
                {
                    "name": "ectonucleoside triphosphate diphosphohydrolase 8",
                    "type": "synonym"
                },
                {
                    "name": "soluble calcium-activated nucleotidase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "Cant1",
                    "type": "recommended"
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                {
                    "name": "Cant1",
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                },
                {
                    "name": "Srapy",
                    "type": "synonym"
                },
                {
                    "name": "srapy",
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                }
            ],
            "record_id": "Q8K4Y7-1",
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                {
                    "id": "0060462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EPI1-1",
            "uniprot_ac": "Q9EPI1",
            "uniprot_id": "XYLT1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
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                    "taxid": 10116,
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Xylosyltransferase 1",
                    "type": "recommended"
                },
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                    "name": "2.4.2.26",
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                },
                {
                    "name": "Peptide O-xylosyltransferase 1",
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                },
                {
                    "name": "Xylosyltransferase I",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Xylt1",
                    "type": "recommended"
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            ],
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                {
                    "id": "0060462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGN8-1",
            "uniprot_ac": "Q9VGN8",
            "uniprot_id": "Q9VGN8_DROME",
            "refseq_ac": "NP_001287287",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Apyrase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.5",
                    "type": "synonym"
                },
                {
                    "name": "CG5276-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG5276",
                    "type": "recommended"
                },
                {
                    "name": "CG5276",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5276",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5276",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGN8-1",
            "evidence": [
                {
                    "id": "0060462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KVA1-1",
            "uniprot_ac": "Q7KVA1",
            "uniprot_id": "XYLT_DROME",
            "refseq_ac": "NP_647705",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Xylosyltransferase Oxt",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.26",
                    "type": "synonym"
                },
                {
                    "name": "CG32300-PB",
                    "type": "synonym"
                },
                {
                    "name": "Imaginal disk type I",
                    "type": "synonym"
                },
                {
                    "name": "O-xylosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Peptide O-xylosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Peptide-O-xylosyl-transferase",
                    "type": "synonym"
                },
                {
                    "name": "Peptide-o-xylosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "drosophila peptide O-xylosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "oxt-PB",
                    "type": "synonym"
                },
                {
                    "name": "peptide O-xylosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oxt",
                    "type": "recommended"
                },
                {
                    "name": "CG17771",
                    "type": "synonym"
                },
                {
                    "name": "CG17772",
                    "type": "synonym"
                },
                {
                    "name": "CG32300",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32300",
                    "type": "synonym"
                },
                {
                    "name": "OXT",
                    "type": "synonym"
                },
                {
                    "name": "Oxt",
                    "type": "synonym"
                },
                {
                    "name": "anon-i2",
                    "type": "synonym"
                },
                {
                    "name": "dOXT",
                    "type": "synonym"
                },
                {
                    "name": "dXylT",
                    "type": "synonym"
                },
                {
                    "name": "oxt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KVA1-1",
            "evidence": [
                {
                    "id": "0060462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060462"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060462"
}