{
    "disease_id": "DOID:0080700",
    "recommended_name": {
        "id": "DOID:0080700",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080700",
        "name": "caudal regression syndrome",
        "description": "A physical disorder that is characterized by impairment of the development of the lower half of the body."
    },
    "synonyms": [
        {
            "id": "DOID:0080700",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080700",
            "name": "caudal dysgenesis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080700",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080700",
            "name": "caudal dysplasia sequence",
            "description": ""
        },
        {
            "id": "DOID:0080700",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080700",
            "name": "caudal regression sequence",
            "description": ""
        },
        {
            "id": "DOID:0080700",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080700",
            "name": "sacral agenesis",
            "description": ""
        },
        {
            "id": "DOID:0080700",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080700",
            "name": "sacral defect with anterior meningocele",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080700"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080700",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q802Y8-1",
            "uniprot_ac": "Q802Y8",
            "uniprot_id": "ZB16A_DANRE",
            "refseq_ac": "NP_955929",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger and BTB domain-containing protein 16-A",
                    "type": "recommended"
                },
                {
                    "name": "Promyelocytic leukemia zinc finger protein-A",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein PLZF-A",
                    "type": "synonym"
                },
                {
                    "name": "plzfa",
                    "type": "synonym"
                },
                {
                    "name": "promyelocytic leukemia zinc finger protein-A",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain containing 16",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 16-A",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zbtb16a",
                    "type": "recommended"
                },
                {
                    "name": "ZNF145",
                    "type": "synonym"
                },
                {
                    "name": "plzfa",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb93g12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc07c10",
                    "type": "synonym"
                },
                {
                    "name": "zbtb16a",
                    "type": "synonym"
                },
                {
                    "name": "zbtb16",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55675",
                    "type": "synonym"
                }
            ],
            "record_id": "Q802Y8-1",
            "evidence": [
                {
                    "id": "0080700",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080700"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80Z96-1",
            "uniprot_ac": "Q80Z96",
            "uniprot_id": "VANG1_MOUSE",
            "refseq_ac": "NP_808213",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vang-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "KAI1 COOH-terminal interacting tetraspanin",
                    "type": "synonym"
                },
                {
                    "name": "Loop-tail protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Van Gogh-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "loop-tail protein 2",
                    "type": "synonym"
                },
                {
                    "name": "strabismus",
                    "type": "synonym"
                },
                {
                    "name": "van Gogh-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "vang, van gogh-like 1",
                    "type": "synonym"
                },
                {
                    "name": "vang-like 1 (van gogh, Drosophila)",
                    "type": "synonym"
                },
                {
                    "name": "vang-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vangl1",
                    "type": "recommended"
                },
                {
                    "name": "Kitenin",
                    "type": "synonym"
                },
                {
                    "name": "Lpp2",
                    "type": "synonym"
                },
                {
                    "name": "Stb2",
                    "type": "synonym"
                },
                {
                    "name": "Stbm",
                    "type": "synonym"
                },
                {
                    "name": "Vangl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80Z96-1",
            "evidence": [
                {
                    "id": "0080700",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080700"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZRZ0-1",
            "uniprot_ac": "A0A8I5ZRZ0",
            "uniprot_id": "A0A8I5ZRZ0_RAT",
            "refseq_ac": "XP_006233116",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vang-like protein",
                    "type": "recommended"
                },
                {
                    "name": "vang-like protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vangl1",
                    "type": "recommended"
                },
                {
                    "name": "Vangl1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZRZ0-1",
            "evidence": [
                {
                    "id": "0080700",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080700"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5S3S9-1",
            "uniprot_ac": "Q5S3S9",
            "uniprot_id": "Q5S3S9_RAT",
            "refseq_ac": "NP_001013199",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polydactyly-luxate syndrome",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger and BTB domain containing 16",
                    "type": "synonym"
                },
                {
                    "name": "promyelocytic leukemia zinc finger",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain containing 16 protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 16",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 145",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zbtb16",
                    "type": "recommended"
                },
                {
                    "name": "Lx",
                    "type": "synonym"
                },
                {
                    "name": "Plzf",
                    "type": "synonym"
                },
                {
                    "name": "Zbtb16",
                    "type": "synonym"
                },
                {
                    "name": "Zfp145",
                    "type": "synonym"
                },
                {
                    "name": "Znf145",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5S3S9-1",
            "evidence": [
                {
                    "id": "0080700",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080700"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JQX6-1",
            "uniprot_ac": "A8JQX6",
            "uniprot_id": "A8JQX6_DROME",
            "refseq_ac": "NP_001097748",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Ouib",
                    "type": "recommended"
                },
                {
                    "name": "CG4820-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG4820",
                    "type": "recommended"
                },
                {
                    "name": "CG4820",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4820",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4820",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080700",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080700"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KEN4-1",
            "uniprot_ac": "A0A0B4KEN4",
            "uniprot_id": "A0A0B4KEN4_DROME",
            "refseq_ac": "NP_001260819",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vang-like protein",
                    "type": "recommended"
                },
                {
                    "name": "CG8075-PB",
                    "type": "synonym"
                },
                {
                    "name": "Van Gogh/Strabismus",
                    "type": "synonym"
                },
                {
                    "name": "Van gogh, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "VanGogh",
                    "type": "synonym"
                },
                {
                    "name": "Vang-PB",
                    "type": "synonym"
                },
                {
                    "name": "Vang-gogh",
                    "type": "synonym"
                },
                {
                    "name": "sltrabismus",
                    "type": "synonym"
                },
                {
                    "name": "strabismus",
                    "type": "synonym"
                },
                {
                    "name": "van gogh",
                    "type": "synonym"
                },
                {
                    "name": "van-gogh",
                    "type": "synonym"
                },
                {
                    "name": "vang gogh",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vang",
                    "type": "recommended"
                },
                {
                    "name": "CG8075",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8075",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8075",
                    "type": "synonym"
                },
                {
                    "name": "Stbm",
                    "type": "synonym"
                },
                {
                    "name": "Stb",
                    "type": "synonym"
                },
                {
                    "name": "Strabismus",
                    "type": "synonym"
                },
                {
                    "name": "VANG",
                    "type": "synonym"
                },
                {
                    "name": "Van Gogh",
                    "type": "synonym"
                },
                {
                    "name": "Vang/Stbm",
                    "type": "synonym"
                },
                {
                    "name": "Vangl",
                    "type": "synonym"
                },
                {
                    "name": "Vang",
                    "type": "synonym"
                },
                {
                    "name": "stbm/vang",
                    "type": "synonym"
                },
                {
                    "name": "stbm",
                    "type": "synonym"
                },
                {
                    "name": "stb",
                    "type": "synonym"
                },
                {
                    "name": "strabismus/Van Gogh",
                    "type": "synonym"
                },
                {
                    "name": "strabismus",
                    "type": "synonym"
                },
                {
                    "name": "vang/stbm",
                    "type": "synonym"
                },
                {
                    "name": "vangogh/strabismus",
                    "type": "synonym"
                },
                {
                    "name": "vang",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KEN4-1",
            "evidence": [
                {
                    "id": "0080700",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080700"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05516-1",
            "uniprot_ac": "Q05516",
            "uniprot_id": "ZBT16_HUMAN",
            "refseq_ac": "NP_001018011",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger and BTB domain-containing protein 16",
                    "type": "recommended"
                },
                {
                    "name": "Promyelocytic leukemia zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 145",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein PLZF",
                    "type": "synonym"
                },
                {
                    "name": "promyelocytic leukaemia zinc finger",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 16 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 16",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein PLZF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZBTB16",
                    "type": "recommended"
                },
                {
                    "name": "PLZF",
                    "type": "synonym"
                },
                {
                    "name": "ZBTB16",
                    "type": "synonym"
                },
                {
                    "name": "ZNF145",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05516-1",
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                {
                    "id": "0080700",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080700"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TAA9-1",
            "uniprot_ac": "Q8TAA9",
            "uniprot_id": "VANG1_HUMAN",
            "refseq_ac": "NP_001165882",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vang-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "KAI1 C-terminal interacting tetraspanin",
                    "type": "synonym"
                },
                {
                    "name": "LPP2",
                    "type": "synonym"
                },
                {
                    "name": "Loop-tail protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Strabismus 2",
                    "type": "synonym"
                },
                {
                    "name": "Van Gogh-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "loop-tail protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "strabismus 2",
                    "type": "synonym"
                },
                {
                    "name": "van Gogh-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "vang-like 1 (van gogh, Drosophila)",
                    "type": "synonym"
                },
                {
                    "name": "vang-like protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "vang-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VANGL1",
                    "type": "recommended"
                },
                {
                    "name": "KITENIN",
                    "type": "synonym"
                },
                {
                    "name": "LPP2",
                    "type": "synonym"
                },
                {
                    "name": "STB2",
                    "type": "synonym"
                },
                {
                    "name": "STBM2",
                    "type": "synonym"
                },
                {
                    "name": "VANGL1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TAA9-1",
            "evidence": [
                {
                    "id": "0080700",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080700"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080700"
}
