{
    "disease_id": "DOID:0050581",
    "recommended_name": {
        "id": "DOID:0050581",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050581",
        "name": "brachydactyly",
        "description": "A dysostosis characterized by short fingers and toes."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0110964",
            "label": "brachydactyly type A1",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0110977",
                    "label": "brachydactyly type A1C",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110978",
                    "label": "brachydactyly type A1D",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0110965",
            "label": "brachydactyly type A2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110967",
            "label": "brachydactyly type A4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110969",
            "label": "brachydactyly type B1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110970",
            "label": "brachydactyly type C",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110971",
            "label": "brachydactyly type D",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110972",
            "label": "brachydactyly type E1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110975",
            "label": "brachydactyly type B2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110976",
            "label": "brachydactyly type E2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0110967",
        "DOID:0110976",
        "DOID:0110965",
        "DOID:0110964",
        "DOID:0110971",
        "DOID:0110978",
        "DOID:0110975",
        "DOID:0110969",
        "DOID:0110977",
        "DOID:0110970",
        "DOID:0050581",
        "DOID:0110972"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050581",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050581",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q90472-1",
            "uniprot_ac": "Q90472",
            "uniprot_id": "HXDDA_DANRE",
            "refseq_ac": "NP_571244",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Homeobox protein Hox-D13a",
                    "type": "recommended"
                },
                {
                    "name": "Hox-D13",
                    "type": "synonym"
                },
                {
                    "name": "homeo box D13a",
                    "type": "synonym"
                },
                {
                    "name": "homeobox gene D-13",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-D13a",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "hoxd13a",
                    "type": "recommended"
                },
                {
                    "name": "hoxd-13",
                    "type": "synonym"
                },
                {
                    "name": "hoxd13a",
                    "type": "synonym"
                },
                {
                    "name": "hoxd13",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110511",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90472-1",
            "evidence": [
                {
                    "id": "0050581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050581"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7F9I7-1",
            "uniprot_ac": "E7F9I7",
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            "refseq_ac": "XP_005173217",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Sulfate transporter",
                    "type": "synonym"
                },
                {
                    "name": "sulfate transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc26a2",
                    "type": "recommended"
                },
                {
                    "name": "slc26a2",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F9I7-1",
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                {
                    "id": "0050581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050581"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70217-1",
            "uniprot_ac": "P70217",
            "uniprot_id": "HXD13_MOUSE",
            "refseq_ac": "NP_032301",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Homeobox protein Hox-D13",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein Hox-4.8",
                    "type": "synonym"
                },
                {
                    "name": "homeo box D13",
                    "type": "synonym"
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                    "name": "homeobox protein Hox-4.8",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-D13",
                    "type": "synonym"
                }
            ],
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                    "name": "Hoxd13",
                    "type": "recommended"
                },
                {
                    "name": "Hox-4.8",
                    "type": "synonym"
                },
                {
                    "name": "Hoxd13",
                    "type": "synonym"
                },
                {
                    "name": "spdh",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050581",
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                }
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        },
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Sulfate transporter",
                    "type": "recommended"
                },
                {
                    "name": "Diastrophic dysplasia protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "ST-OB",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 26 member 2",
                    "type": "synonym"
                },
                {
                    "name": "diastrophic dysplasia protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 26 member 2",
                    "type": "synonym"
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                    "name": "sulfate transporter",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Slc26a2",
                    "type": "recommended"
                },
                {
                    "name": "Dtdst",
                    "type": "synonym"
                },
                {
                    "name": "Dtd",
                    "type": "synonym"
                },
                {
                    "name": "ST-OB",
                    "type": "synonym"
                },
                {
                    "name": "Slc26a2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62273-1",
            "evidence": [
                {
                    "id": "0050581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050581"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53394-1",
            "uniprot_ac": "P53394",
            "uniprot_id": "SULX_YEAST",
            "refseq_ac": "NP_015328",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative sulfate transporter YPR003C",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LPZ3C",
                    "type": "synonym"
                },
                {
                    "name": "YP9723.03C",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050581",
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                }
            ]
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            "refseq_ac": "",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "id": "0050581",
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                    "name": "Rattus norvegicus",
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            ],
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                    "name": "Sulfate transporter",
                    "type": "recommended"
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                {
                    "name": "Diastrophic dysplasia protein homolog",
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                },
                {
                    "name": "Solute carrier family 26 member 2",
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                    "name": "diastrophic dysplasia protein homolog",
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                },
                {
                    "name": "solute carrier family 26 (sulfate transporter), member 2",
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                    "name": "Slc26a2",
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                    "name": "Dtdst",
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                    "id": "0050581",
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            "uniprot_ac": "Q9VVM6",
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                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
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                }
            ],
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                    "name": "CG5485-PA",
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                {
                    "name": "Prestin-PA",
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                {
                    "name": "Prestin",
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                    "name": "CG5845",
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                {
                    "name": "Dmel\\CG5485",
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                    "name": "Dmel_CG5485",
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                    "name": "Slc26a5",
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                    "name": "dPrestin",
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                    "id": "0050581",
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            "uniprot_canonical_ac": "P50443-1",
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                    "name": "Homo sapiens",
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            ],
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                    "name": "Sulfate transporter",
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                    "name": "sulfate anion transporter 1",
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                    "name": "sulfate transporter",
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                    "name": "DTD",
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                    "name": "EDM4",
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                    "name": "MST153",
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                    "id": "0050581",
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                    "name": "homeobox protein Hox-D13",
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                    "name": "synpolydactyly",
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                }
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                    "name": "HOXD13",
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                    "name": "BDE",
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                    "name": "BDSD",
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                },
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                    "name": "HOX4I",
                    "type": "synonym"
                },
                {
                    "name": "HOXD13",
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                    "name": "SPD1",
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                    "id": "0050581",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050581"
}
