{
    "disease_id": "DOID:0080697",
    "recommended_name": {
        "id": "DOID:0080697",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080697",
        "name": "Opitz GBBB syndrome",
        "description": "A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0080697",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080697",
            "name": "Opitz G/BBB Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080697",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080697",
            "name": "Opitz GBBB syndrome type I",
            "description": ""
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "X-linked Opitz G/BBB syndrome",
            "description": "X-linked form of Opitz G/BBB syndrome."
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "Opitz G/BBB syndrome, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "Opitz GBBB syndrome, type I, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "X-linked Opitz BBB/G syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "X-linked Opitz G/BBB syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "X-linked Opitz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "XLOS",
            "description": ""
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "GBBB1",
            "description": ""
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "Opitz Bbbg syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "Opitz GBBB syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "Opitz GBBB syndrome, type I",
            "description": ""
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "Opitz-G syndrome, type 1",
            "description": ""
        },
        {
            "id": "MIM:300000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300000",
            "name": "Opitz GBBB syndrome",
            "description": "Opitz GBBB syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080697"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080697",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080697",
            "categories": []
        },
        {
            "id": "MONDO:0010222",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "categories": []
        },
        {
            "id": "MIM:300000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300000",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "A0A8M3AWB4-1",
            "uniprot_ac": "A0A8M3AWB4",
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "E3 ubiquitin-protein ligase Midline-1",
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                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase Midline-1 isoform X1",
                    "type": "synonym"
                },
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                    "name": "RING finger protein Midline-1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase Midline-1",
                    "type": "synonym"
                },
                {
                    "name": "Tripartite motif-containing protein 18",
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                }
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                {
                    "name": "mid1",
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                },
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                    "name": "mid1",
                    "type": "synonym"
                }
            ],
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                    "id": "0080697",
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                }
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                }
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                {
                    "name": "E3 ubiquitin-protein ligase TRIM9 isoform X2",
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                }
            ],
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                    "name": "trim9",
                    "type": "recommended"
                },
                {
                    "name": "fj48c11",
                    "type": "synonym"
                },
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                    "name": "trim9",
                    "type": "synonym"
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                    "name": "wu:fj48c11",
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                    "name": "zgc:77357",
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                }
            ]
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            "uniprot_canonical_ac": "O70583-1",
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                }
            ],
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                {
                    "name": "E3 ubiquitin-protein ligase Midline-1",
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                },
                {
                    "name": "E3 ubiquitin-protein ligase Midline-1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase Midline-1",
                    "type": "synonym"
                },
                {
                    "name": "Midin",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein Midline-1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase Midline-1",
                    "type": "synonym"
                },
                {
                    "name": "Tripartite motif-containing protein 18",
                    "type": "synonym"
                },
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                    "name": "midin",
                    "type": "synonym"
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                {
                    "name": "tripartite motif-containing protein 18",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Mid1",
                    "type": "recommended"
                },
                {
                    "name": "61B3-R",
                    "type": "synonym"
                },
                {
                    "name": "DXHXS1141",
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                {
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                    "name": "Mid1",
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                    "id": "0080697",
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                    "type": "synonym"
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                    "name": "E3 ubiquitin-protein ligase TRIM9",
                    "type": "synonym"
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                {
                    "name": "RING-type E3 ubiquitin transferase TRIM9",
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                    "name": "Tripartite motif-containing protein 9",
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                    "id": "0080697",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Tripartite motif-containing protein 67",
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                    "id": "0080697",
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                    "name": "Homo sapiens",
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            ],
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                    "name": "E3 ubiquitin-protein ligase Midline-1",
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                    "name": "BBBG1",
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                    "name": "OS",
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                    "id": "0080697",
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                }
            ],
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                    "name": "Tripartite motif-containing protein 67",
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                    "name": "tripartite motif-containing protein 67 isoform X3",
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                    "name": "RGD1560667",
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                    "name": "Trim67",
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                    "id": "0080697",
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                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
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                    "name": "E3 ubiquitin-protein ligase TRIM9",
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                    "name": "Anomalies in sensory axon patterning protein",
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                    "name": "CG31721-PB",
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                {
                    "name": "RING-type E3 ubiquitin transferase TRIM9",
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                },
                {
                    "name": "Trim9-PB",
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                {
                    "name": "Tripartite motif containing protein 9",
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                },
                {
                    "name": "anomalies in sensory axon patterning",
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                    "name": "asap",
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                {
                    "name": "tripartite motif containing 9, isoform B",
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                }
            ],
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                    "name": "Trim9",
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                    "name": "Asap",
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                },
                {
                    "name": "CG13145",
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                {
                    "name": "CG31721",
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                },
                {
                    "name": "CG6256",
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                {
                    "name": "Dmel\\CG31721",
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                {
                    "name": "TRIM9",
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                {
                    "name": "Trim9",
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                },
                {
                    "name": "asap",
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                {
                    "name": "cg31721",
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                {
                    "name": "dTrim9",
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                }
            ],
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                {
                    "id": "0080697",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24462-1",
            "uniprot_ac": "P24462",
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                {
                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 3A7",
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                },
                {
                    "name": "1.14.14.1",
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                },
                {
                    "name": "CYPIIIA7",
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                {
                    "name": "Cytochrome P450-HFLA",
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                },
                {
                    "name": "P450HLp2",
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                },
                {
                    "name": "aryl hydrocarbon hydroxylase",
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                },
                {
                    "name": "cytochrome P450 3A7",
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                },
                {
                    "name": "cytochrome P450, family 3, subfamily A, polypeptide 7",
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                },
                {
                    "name": "cytochrome P450, subfamily IIIA, polypeptide 7",
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                },
                {
                    "name": "cytochrome P450-HFLA",
                    "type": "synonym"
                },
                {
                    "name": "flavoprotein-linked monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "microsomal monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "xenobiotic monooxygenase",
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                }
            ],
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                {
                    "name": "CYP3A7",
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                    "name": "CP37",
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                },
                {
                    "name": "CYP3A7",
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                },
                {
                    "name": "CYPIIIA7",
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                },
                {
                    "name": "P-450(HFL33)",
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                {
                    "name": "P-450111A7",
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                {
                    "name": "P450-HFLA",
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                {
                    "name": "P450HLp2",
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            ],
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                    "id": "0080697",
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                }
            ]
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                }
            ],
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                    "name": "E3 ubiquitin-protein ligase TRIM9",
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                    "name": "2.3.2.27",
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                {
                    "name": "E3 ubiquitin-protein ligase TRIM9 isoform 1",
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                    "name": "E3 ubiquitin-protein ligase TRIM9",
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                {
                    "name": "RING finger protein 91",
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                    "name": "RING-type E3 ubiquitin transferase TRIM9",
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                    "name": "tripartite motif-containing protein 9",
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                }
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                    "name": "KIAA0282",
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                {
                    "name": "RNF91",
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                {
                    "name": "SPRING",
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                {
                    "name": "TRIM9",
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                }
            ],
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                    "id": "0080697",
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                }
            ]
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        {
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                }
            ],
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                    "name": "TRIM9-like protein TNL",
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                    "name": "TRIM9-like protein",
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                {
                    "name": "tripartite motif-containing protein 67 isoform 1",
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                {
                    "name": "tripartite motif-containing protein 67",
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            ],
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                    "name": "TRIM67",
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                    "name": "TNL",
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                {
                    "name": "TRIM67",
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            ],
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                    "id": "0080697",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080697"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080697"
}