{
    "disease_id": "DOID:0080171",
    "recommended_name": {
        "id": "DOID:0080171",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080171",
        "name": "esophageal atresia/tracheoesophageal fistula",
        "description": "A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing."
    },
    "synonyms": [
        {
            "id": "DOID:0080171",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080171",
            "name": "esophageal atresia and/or tracheoesophageal fistula",
            "description": ""
        },
        {
            "id": "DOID:0080171",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080171",
            "name": "tracheoesophageal fistula with or without esohageal atresia",
            "description": ""
        },
        {
            "id": "MONDO:0008586",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008586",
            "name": "esophageal atresia/tracheoesophageal fistula",
            "description": "A rare congenital, esophageal disorder characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress."
        },
        {
            "id": "MONDO:0008586",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008586",
            "name": "Esophageal Atresia and/or Tracheoesophageal Fistula",
            "description": ""
        },
        {
            "id": "MONDO:0008586",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008586",
            "name": "TEF",
            "description": ""
        },
        {
            "id": "MONDO:0008586",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008586",
            "name": "te fistula",
            "description": ""
        },
        {
            "id": "MONDO:0008586",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008586",
            "name": "tracheoesophageal fistula",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080171"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080171",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080171",
            "categories": []
        },
        {
            "id": "MONDO:0008586",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008586",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8UW00-1",
            "uniprot_ac": "Q8UW00",
            "uniprot_id": "HN1BB_DANRE",
            "refseq_ac": "NP_919353",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte nuclear factor 1-beta-B",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-beta-B",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1B-B",
                    "type": "synonym"
                },
                {
                    "name": "HNF1g",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte nuclear factor 1-beta-like",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte nuclear factor 1-gamma",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-beta-B",
                    "type": "synonym"
                },
                {
                    "name": "liver-enriched atypical homeobox-containing transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 2 like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hnf1bb",
                    "type": "recommended"
                },
                {
                    "name": "HNF1g",
                    "type": "synonym"
                },
                {
                    "name": "hnf1bb",
                    "type": "synonym"
                },
                {
                    "name": "hnf1bl",
                    "type": "synonym"
                },
                {
                    "name": "hnf1gamma",
                    "type": "synonym"
                },
                {
                    "name": "hnf1g",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc23f06",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8UW00-1",
            "evidence": [
                {
                    "id": "0080171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1L1N5-1",
            "uniprot_ac": "A1L1N5",
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            "refseq_ac": "NP_571955",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte nuclear factor 1-beta-A",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-beta-A",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1B-2",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1B-A",
                    "type": "synonym"
                },
                {
                    "name": "HNF1 homeobox b",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte nuclear factor 1-beta-2",
                    "type": "synonym"
                },
                {
                    "name": "TCF-2",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "Variant hepatic nuclear factor 1",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-beta-2",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-beta-A",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-beta",
                    "type": "synonym"
                },
                {
                    "name": "hob",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 2, hepatic",
                    "type": "synonym"
                },
                {
                    "name": "vHNF1",
                    "type": "synonym"
                },
                {
                    "name": "variant hepatic nuclear factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hnf1ba",
                    "type": "recommended"
                },
                {
                    "name": "chunp6877",
                    "type": "synonym"
                },
                {
                    "name": "hnf1ba",
                    "type": "synonym"
                },
                {
                    "name": "hnf1b",
                    "type": "synonym"
                },
                {
                    "name": "mst",
                    "type": "synonym"
                },
                {
                    "name": "tcf2",
                    "type": "synonym"
                },
                {
                    "name": "vhnf1",
                    "type": "synonym"
                }
            ],
            "record_id": "A1L1N5-1",
            "evidence": [
                {
                    "id": "0080171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92008-1",
            "uniprot_ac": "Q92008",
            "uniprot_id": "SHH_DANRE",
            "refseq_ac": "NP_571138",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sonic hedgehog protein",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "SHHA",
                    "type": "synonym"
                },
                {
                    "name": "Shh N-terminal processed signaling domains",
                    "type": "synonym"
                },
                {
                    "name": "Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains",
                    "type": "synonym"
                },
                {
                    "name": "ShhNC",
                    "type": "synonym"
                },
                {
                    "name": "ShhNp",
                    "type": "synonym"
                },
                {
                    "name": "ShhN",
                    "type": "synonym"
                },
                {
                    "name": "Sonic hedgehog protein N-product",
                    "type": "synonym"
                },
                {
                    "name": "VHH-1",
                    "type": "synonym"
                },
                {
                    "name": "shh unprocessed N-terminal signaling and C-terminal autoprocessing domains",
                    "type": "synonym"
                },
                {
                    "name": "sonic hedgehog a",
                    "type": "synonym"
                },
                {
                    "name": "sonic hedgehog protein A",
                    "type": "synonym"
                },
                {
                    "name": "sonic hedgehog protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "sonic-you",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shha",
                    "type": "recommended"
                },
                {
                    "name": "ShhNC",
                    "type": "synonym"
                },
                {
                    "name": "fc83d08",
                    "type": "synonym"
                },
                {
                    "name": "shha",
                    "type": "synonym"
                },
                {
                    "name": "shh",
                    "type": "synonym"
                },
                {
                    "name": "syu",
                    "type": "synonym"
                },
                {
                    "name": "vhh-1",
                    "type": "synonym"
                },
                {
                    "name": "vhh1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc83d08",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92008-1",
            "evidence": [
                {
                    "id": "0080171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q90419-1",
            "uniprot_ac": "Q90419",
            "uniprot_id": "TWHH_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tiggy-winkle hedgehog protein",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "SHHB",
                    "type": "synonym"
                },
                {
                    "name": "Shh N-terminal processed signaling domains",
                    "type": "synonym"
                },
                {
                    "name": "ShhNp",
                    "type": "synonym"
                },
                {
                    "name": "ShhN",
                    "type": "synonym"
                },
                {
                    "name": "Sonic hedgehog protein B",
                    "type": "synonym"
                },
                {
                    "name": "Sonic hedgehog protein N-product",
                    "type": "synonym"
                },
                {
                    "name": "TWHH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shhb",
                    "type": "recommended"
                },
                {
                    "name": "twhh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90419-1",
            "evidence": [
                {
                    "id": "0080171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9YHV3-1",
            "uniprot_ac": "Q9YHV3",
            "uniprot_id": "NOGG3_DANRE",
            "refseq_ac": "NP_571057",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Noggin-3",
                    "type": "recommended"
                },
                {
                    "name": "noggin-3 precursor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "nog3",
                    "type": "recommended"
                },
                {
                    "name": "nog3",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080171",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W741-1",
            "uniprot_ac": "Q9W741",
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            "refseq_ac": "",
            "glycoprotein": "yes",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Noggin-1",
                    "type": "recommended"
                }
            ],
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                {
                    "name": "nog1",
                    "type": "recommended"
                }
            ],
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                {
                    "id": "0080171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97466-1",
            "uniprot_ac": "P97466",
            "uniprot_id": "NOGG_MOUSE",
            "refseq_ac": "NP_032737",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Noggin",
                    "type": "recommended"
                },
                {
                    "name": "noggin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nog",
                    "type": "recommended"
                },
                {
                    "name": "Nog",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q65CL1-1",
            "uniprot_ac": "Q65CL1",
            "uniprot_id": "CTNA3_MOUSE",
            "refseq_ac": "NP_001157848",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin alpha-3",
                    "type": "recommended"
                },
                {
                    "name": "Alpha T-catenin",
                    "type": "synonym"
                },
                {
                    "name": "Cadherin-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "alpha T-catenin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-catenin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "alphaT-catenin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "catenin (cadherin associated protein), alpha 3",
                    "type": "synonym"
                },
                {
                    "name": "catenin alpha-3 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctnna3",
                    "type": "recommended"
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                {
                    "name": "4930429L08Rik",
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                {
                    "name": "4933408A16",
                    "type": "synonym"
                },
                {
                    "name": "Catna3",
                    "type": "synonym"
                },
                {
                    "name": "Ctnna3",
                    "type": "synonym"
                },
                {
                    "name": "Vr22",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27889-1",
            "uniprot_ac": "P27889",
            "uniprot_id": "HNF1B_MOUSE",
            "refseq_ac": "NP_001278197",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte nuclear factor 1-beta",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-beta",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1B",
                    "type": "synonym"
                },
                {
                    "name": "Homeoprotein LFB3",
                    "type": "synonym"
                },
                {
                    "name": "TCF-2",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-beta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-beta",
                    "type": "synonym"
                },
                {
                    "name": "homeoprotein LFB3",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Hnf1b",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-beta",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1Beta",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1B",
                    "type": "synonym"
                },
                {
                    "name": "Hnf-1b",
                    "type": "synonym"
                },
                {
                    "name": "Hnf1beta",
                    "type": "synonym"
                },
                {
                    "name": "Hnf1b",
                    "type": "synonym"
                },
                {
                    "name": "LFB3",
                    "type": "synonym"
                },
                {
                    "name": "Tcf-2",
                    "type": "synonym"
                },
                {
                    "name": "Tcf2",
                    "type": "synonym"
                },
                {
                    "name": "vHNF1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62226-1",
            "uniprot_ac": "Q62226",
            "uniprot_id": "SHH_MOUSE",
            "refseq_ac": "NP_033196",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sonic hedgehog protein",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "HHG-1",
                    "type": "synonym"
                },
                {
                    "name": "SHH",
                    "type": "synonym"
                },
                {
                    "name": "Shh N-terminal processed signaling domains",
                    "type": "synonym"
                },
                {
                    "name": "Shh unprocessed N-terminal signaling and C-terminal autoprocfretinaessing domains",
                    "type": "synonym"
                },
                {
                    "name": "ShhNC",
                    "type": "synonym"
                },
                {
                    "name": "ShhNp",
                    "type": "synonym"
                },
                {
                    "name": "Sonic hedgehog protein 19 kDa product",
                    "type": "synonym"
                },
                {
                    "name": "hemimelic extra toes",
                    "type": "synonym"
                },
                {
                    "name": "shh unprocessed N-terminal signaling and C-terminal autoprocessing domains",
                    "type": "synonym"
                },
                {
                    "name": "short digits",
                    "type": "synonym"
                },
                {
                    "name": "sonic hedgehog protein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sonic hedgehog protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shh",
                    "type": "recommended"
                },
                {
                    "name": "9530036O11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dsh",
                    "type": "synonym"
                },
                {
                    "name": "HHG-1",
                    "type": "synonym"
                },
                {
                    "name": "Hhg1",
                    "type": "synonym"
                },
                {
                    "name": "Hxl3",
                    "type": "synonym"
                },
                {
                    "name": "Hx",
                    "type": "synonym"
                },
                {
                    "name": "M100081",
                    "type": "synonym"
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                {
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                    "name": "ciA",
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                    "name": "ciD",
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                    "name": "ciR",
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                    "name": "ci[D]",
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                {
                    "name": "ci",
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                {
                    "name": "d Ci",
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                {
                    "name": "l(4)102ABc",
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                    "name": "l(4)13",
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}