{
    "disease_id": "DOID:0080697",
    "recommended_name": {
        "id": "DOID:0080697",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0080697",
            "name": "Opitz G/BBB Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080697",
            "resource": "Disease Ontology",
            "url": "http://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, X-linked",
            "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 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "Opitz syndrome, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "Opitz-G syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "hypertelorism with esophageal Abnormality and hypospadias",
            "description": ""
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "hypertelorism-hypospadias syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010222",
            "name": "telecanthus-hypospadias syndrome",
            "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": "http://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": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "M9MRI4-1",
            "uniprot_ac": "M9MRI4",
            "uniprot_id": "TRIM9_DROME",
            "refseq_ac": "NP_001188786",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "E3 ubiquitin-protein ligase TRIM9",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Anomalies in sensory axon patterning protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG31721-PB; Trim9-PB; anomalies in sensory axon patterning",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRIM9",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tripartite motif containing protein 9",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "asap",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif containing 9, isoform B",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trim9",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG31721",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Trim9",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "asap; Asap; CG13145; cg31721; CG31721; CG6256; Dmel\\CG31721; dTrim9; TRIM9",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080697",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080697"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70583-1",
            "uniprot_ac": "O70583",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase Midline-1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase Midline-1 isoform 2",
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                    "type": "synonym"
                },
                {
                    "name": "Midin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein Midline-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase Midline-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tripartite motif-containing protein 18",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "midin; tripartite motif-containing protein 18; RING finger protein Midline-1; E3 ubiquitin-protein ligase Midline-1; RING-type E3 ubiquitin transferase Midline-1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mid1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "61B3-R; DXHXS1141; Fxy; Trim18",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Fxy",
                    "resource": "UniProtKB",
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                },
                {
                    "name": "Mid1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Trim18",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0080697",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080697"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q505D9-1",
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            "glycoprotein": "yes",
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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": "Tripartite motif-containing protein 67",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "TRIM9-like protein TNL",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif-containing protein 67",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Trim67",
                    "resource": "UniProtKB",
                    "type": "recommended"
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                {
                    "name": "D130049O21Rik; TNL",
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                    "type": "synonym"
                },
                {
                    "name": "Trim67",
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                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080697",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080697"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C7M3-1",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "E3 ubiquitin-protein ligase TRIM9",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM9 isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRIM9",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tripartite motif-containing protein 9",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif-containing protein 9; E3 ubiquitin-protein ligase TRIM9; RING-type E3 ubiquitin transferase TRIM9",
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                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trim9",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0282",
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                    "type": "synonym"
                },
                {
                    "name": "Trim9",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0080697",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080697"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24462-1",
            "uniprot_ac": "P24462",
            "uniprot_id": "CP3A7_HUMAN",
            "refseq_ac": "NP_000756",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 3A7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CYPIIIA7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450-HFLA",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "P450HLp2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "aryl hydrocarbon hydroxylase; microsomal monooxygenase; xenobiotic monooxygenase; flavoprotein-linked monooxygenase; cytochrome P450, subfamily IIIA, polypeptide 7; cytochrome P450-HFLA; cytochrome P450, family 3, subfamily A, polypeptide 7",
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                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 3A7",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP3A7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CP37; CYPIIIA7; P-450(HFL33); P-450111A7; P450-HFLA; P450HLp2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CYP3A7",
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                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080697",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080697"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZTA4-3",
            "uniprot_ac": "Q6ZTA4",
            "uniprot_id": "TRI67_HUMAN",
            "refseq_ac": "NP_001004342",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tripartite motif-containing protein 67",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "TRIM9-like protein TNL; tripartite motif-containing protein 67",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "TRIM9-like protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif-containing protein 67 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRIM67",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "TNL",
                    "resource": "RefSeq",
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                },
                {
                    "name": "TNL",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TRIM67",
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                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0080697",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080697"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9C026-1",
            "uniprot_ac": "Q9C026",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                }
            ],
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                {
                    "name": "E3 ubiquitin-protein ligase TRIM9",
                    "resource": "UniProtKB",
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                },
                {
                    "name": "2.3.2.27",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM9 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 91",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRIM9",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tripartite motif-containing protein 9",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "homolog of rat RING finger Spring; tripartite motif-containing protein 9; E3 ubiquitin-protein ligase TRIM9; RING finger protein 91; RING-type E3 ubiquitin transferase TRIM9; SNAP-25-interacting RING finger protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRIM9",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0282",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RNF91; SPRING",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RNF91",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TRIM9",
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                    "type": "synonym"
                }
            ],
            "evidence": [
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                    "id": "0080697",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080697"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15344-1",
            "uniprot_ac": "O15344",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase Midline-1",
                    "resource": "UniProtKB",
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                },
                {
                    "name": "2.3.2.27",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase Midline-1 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Midin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Putative transcription factor XPRF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 59",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein Midline-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase Midline-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tripartite motif-containing protein 18",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "putative transcription factor XPRF; tripartite motif protein TRIM18; zinc finger on X and Y, mouse, homolog of; tripartite motif-containing protein 18; RING finger protein 59; midline 1 RING finger protein; RING finger protein Midline-1; E3 ubiquitin-protein ligase Midline-1; Opitz/BBB syndrome; RING-type E3 ubiquitin transferase Midline-1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MID1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "BBBG1; FXY; GBBB; GBBB1; MIDIN; OGS1; OS; OSX; RNF59; TRIM18; XPRF; ZNFXY",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "FXY",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MID1",
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                },
                {
                    "name": "RNF59",
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                },
                {
                    "name": "TRIM18",
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                },
                {
                    "name": "XPRF",
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                    "id": "0080697",
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                    "id": "300000",
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                    "name": "Danio rerio",
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                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "E3 ubiquitin-protein ligase Midline-1",
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                },
                {
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                {
                    "name": "E3 ubiquitin-protein ligase Midline-1",
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                    "name": "RING finger protein Midline-1",
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                {
                    "name": "RING-type E3 ubiquitin transferase Midline-1",
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                }
            ],
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                    "name": "E3 ubiquitin-protein ligase TRIM9 isoform X1",
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                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM9 isoform X1",
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                }
            ],
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                    "name": "trim9",
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                },
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                },
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                    "name": "trim9",
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                },
                {
                    "name": "wu:fj48c11",
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                },
                {
                    "name": "zgc:77357",
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                }
            ],
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                {
                    "id": "0080697",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P82458-1",
            "uniprot_ac": "P82458",
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                {
                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "E3 ubiquitin-protein ligase Midline-1",
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                {
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                    "name": "RING-type E3 ubiquitin transferase Midline-1",
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                {
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                    "name": "tripartite motif-containing protein 18; Finger on X and Y (in rat only on X); RING finger protein Midline-1; E3 ubiquitin-protein ligase Midline-1; midline 1 (Opitz/BBB syndrome); RING-type E3 ubiquitin transferase Midline-1",
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                },
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                }
            ],
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                    "id": "0080697",
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                }
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                    "reference_species": "Rattus norvegicus [10116]"
                }
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                    "name": "Tripartite motif-containing 67",
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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": "RGD1560667",
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                    "name": "Trim67",
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                    "name": "RING-type E3 ubiquitin transferase TRIM9",
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                },
                {
                    "name": "SNAP-25-interacting RING finger protein",
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                    "name": "Tripartite motif-containing protein 9",
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                }
            ],
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                {
                    "name": "Spring",
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                }
            ],
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                    "id": "0080697",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080697"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080697"
}
