{
    "disease_id": "DOID:0050466",
    "recommended_name": {
        "id": "DOID:0050466",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050466",
        "name": "Loeys-Dietz syndrome",
        "description": "A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0060964",
            "label": "Loeys-Dietz syndrome 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070233",
            "label": "Loeys-Dietz syndrome 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070234",
            "label": "Loeys-Dietz syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070235",
            "label": "Loeys-Dietz syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070236",
            "label": "Loeys-Dietz syndrome 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070237",
            "label": "Loeys-Dietz syndrome 3",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070237",
        "DOID:0050466",
        "DOID:0070233",
        "DOID:0070234",
        "DOID:0060964",
        "DOID:0070235",
        "DOID:0070236"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050466",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050466",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P27090-1",
            "uniprot_ac": "P27090",
            "uniprot_id": "TGFB2_MOUSE",
            "refseq_ac": "NP_033393",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transforming growth factor beta-2 proprotein",
                    "type": "recommended"
                },
                {
                    "name": "transforming growth factor beta-2 proprotein isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-2 proprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgfb2",
                    "type": "recommended"
                },
                {
                    "name": "Tgf-beta2",
                    "type": "synonym"
                },
                {
                    "name": "Tgfb-2",
                    "type": "synonym"
                },
                {
                    "name": "Tgfb2",
                    "type": "synonym"
                }
            ],
            "record_id": "P27090-1",
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                {
                    "id": "0050466",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050466"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62312-2",
            "uniprot_ac": "Q62312",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "TGF-beta receptor type-2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor II",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type II",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type-2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type-2",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "TGFR-2",
                    "type": "synonym"
                },
                {
                    "name": "TbetaR-II",
                    "type": "synonym"
                },
                {
                    "name": "Transforming growth factor-beta receptor type II",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor-beta receptor type II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgfbr2",
                    "type": "recommended"
                },
                {
                    "name": "1110020H15Rik",
                    "type": "synonym"
                },
                {
                    "name": "DNIIR",
                    "type": "synonym"
                },
                {
                    "name": "RIIDN",
                    "type": "synonym"
                },
                {
                    "name": "TBR-II",
                    "type": "synonym"
                },
                {
                    "name": "TbetaR-II",
                    "type": "synonym"
                },
                {
                    "name": "TbetaRII",
                    "type": "synonym"
                },
                {
                    "name": "Tgfbr2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050466",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64729-1",
            "uniprot_ac": "Q64729",
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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": "TGF-beta receptor type-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "ESK2",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type I",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type-1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type-1",
                    "type": "synonym"
                },
                {
                    "name": "TGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "TbetaR-I",
                    "type": "synonym"
                },
                {
                    "name": "Transforming growth factor-beta receptor type I",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor-beta receptor type I",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Tgfbr1",
                    "type": "recommended"
                },
                {
                    "name": "ALK5",
                    "type": "synonym"
                },
                {
                    "name": "Alk-5",
                    "type": "synonym"
                },
                {
                    "name": "ESK2",
                    "type": "synonym"
                },
                {
                    "name": "TGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "TbetaR-I",
                    "type": "synonym"
                },
                {
                    "name": "TbetaRI",
                    "type": "synonym"
                },
                {
                    "name": "Tgfbr1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050466",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050466"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06144-1",
            "uniprot_ac": "Q06144",
            "uniprot_id": "ORM2_YEAST",
            "refseq_ac": "NP_013454",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein ORM2",
                    "type": "recommended"
                },
                {
                    "name": "sphingolipid homeostasis protein ORM2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ORM2",
                    "type": "recommended"
                },
                {
                    "name": "ORM2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050466",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050466"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P80204-1",
            "uniprot_ac": "P80204",
            "uniprot_id": "TGFR1_RAT",
            "refseq_ac": "NP_001416585",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TGF-beta receptor type-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "SKR4",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase receptor R4",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type I",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type-1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type-1-like",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type-1",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta type I receptor",
                    "type": "synonym"
                },
                {
                    "name": "TGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "TbetaR-I",
                    "type": "synonym"
                },
                {
                    "name": "Transforming growth factor-beta receptor type I",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor-like kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase receptor R4",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor, beta receptor I",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor-beta receptor type I",
                    "type": "synonym"
                }
            ],
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                    "name": "Tgfbr1",
                    "type": "recommended"
                },
                {
                    "name": "Alk5",
                    "type": "synonym"
                },
                {
                    "name": "Skr4",
                    "type": "synonym"
                },
                {
                    "name": "Tgfbr1",
                    "type": "synonym"
                },
                {
                    "name": "Tgfr-1",
                    "type": "synonym"
                },
                {
                    "name": "tbetaR-I",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050466",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050466"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38438-1",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                }
            ],
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                    "name": "TGF-beta receptor type-2",
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                    "name": "2.7.11.30",
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                    "name": "TGF-beta receptor type II",
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                {
                    "name": "TGF-beta receptor type-2 precursor",
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                },
                {
                    "name": "TGF-beta receptor type-2",
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                {
                    "name": "TGF-beta type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "TGFR-2",
                    "type": "synonym"
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                {
                    "name": "TbetaR-II",
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                {
                    "name": "Transforming growth factor-beta receptor type II",
                    "type": "synonym"
                },
                {
                    "name": "tbetaR-II",
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                },
                {
                    "name": "transforming growth factor beta receptor type II",
                    "type": "synonym"
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                {
                    "name": "transforming growth factor, beta receptor IIT",
                    "type": "synonym"
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                {
                    "name": "transforming growth factor, beta receptor II",
                    "type": "synonym"
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                {
                    "name": "transforming growth factor-b type II receptor",
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                {
                    "name": "transforming growth factor-beta type II receptor",
                    "type": "synonym"
                }
            ],
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                    "name": "Tgfbr2",
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                },
                {
                    "name": "TGF-beta 2",
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                {
                    "name": "Tgfbr2T",
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                {
                    "name": "Tgfbr2",
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                    "id": "0050466",
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                }
            ]
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            "uniprot_canonical_ac": "Q07257-1",
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                    "taxid": 10116,
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Transforming growth factor beta-2 proprotein",
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                    "name": "TGF beta 2 protein",
                    "type": "synonym"
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                {
                    "name": "TGF-beta-2",
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                {
                    "name": "transforming growth factor beta-2 proprotein isoform 1 precursor",
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                    "name": "transforming growth factor beta-2 proprotein",
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            ],
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                    "name": "Tgfb2",
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                    "name": "TGF-B2",
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                    "name": "Tgfb2",
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                {
                    "id": "0050466",
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            ]
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            "uniprot_canonical_ac": "A1Z7L8-1",
            "uniprot_ac": "A1Z7L8",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Receptor protein serine/threonine kinase babo",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
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                {
                    "name": "CG8224-PC",
                    "type": "synonym"
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                {
                    "name": "G protein-coupled receptor kinase 3",
                    "type": "synonym"
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                {
                    "name": "Protein baboon",
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                },
                {
                    "name": "activin A receptor 45A",
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                },
                {
                    "name": "activin type I receptor",
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                {
                    "name": "babo-PC",
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                    "name": "baboa",
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                    "name": "baboon, isoform C",
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                    "name": "baboon",
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                    "name": "babo",
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                    "name": "ATR-1",
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                    "name": "ATR-I",
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                {
                    "name": "Atf1",
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                    "name": "Atr-1",
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                {
                    "name": "Atr-I",
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                {
                    "name": "Atr45A",
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                {
                    "name": "AtrI",
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                },
                {
                    "name": "BABO",
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                },
                {
                    "name": "BaboA",
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                },
                {
                    "name": "Baboon",
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                },
                {
                    "name": "Babo",
                    "type": "synonym"
                },
                {
                    "name": "Bab",
                    "type": "synonym"
                },
                {
                    "name": "CG8224",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8224",
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                },
                {
                    "name": "Gprk-3",
                    "type": "synonym"
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                {
                    "name": "Gprk3",
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                {
                    "name": "STK-E",
                    "type": "synonym"
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                {
                    "name": "atr-I",
                    "type": "synonym"
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                {
                    "name": "babo",
                    "type": "synonym"
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                {
                    "name": "l(2)44Fd",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k16912",
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                    "id": "0050466",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P36897-1",
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                    "name": "Homo sapiens",
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                }
            ],
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                    "name": "TGF-beta receptor type-1",
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                {
                    "name": "2.7.11.30",
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                    "name": "ALK-5",
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                    "name": "ALK5",
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                {
                    "name": "Activin A receptor type II-like protein kinase of 53kD",
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                },
                {
                    "name": "Activin receptor-like kinase 5",
                    "type": "synonym"
                },
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                    "name": "SKR4",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase receptor R4",
                    "type": "synonym"
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                {
                    "name": "TGF-beta receptor type I",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type-1 isoform 2 precursor",
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                {
                    "name": "TGF-beta receptor type-1",
                    "type": "synonym"
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                {
                    "name": "TGF-beta type I receptor",
                    "type": "synonym"
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                {
                    "name": "TGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "TbetaR-I",
                    "type": "synonym"
                },
                {
                    "name": "Transforming growth factor-beta receptor type I",
                    "type": "synonym"
                },
                {
                    "name": "activin A receptor type II-like kinase, 53kDa",
                    "type": "synonym"
                },
                {
                    "name": "activin A receptor type II-like protein kinase of 53kD",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor-like kinase 5",
                    "type": "synonym"
                },
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                    "name": "mutant transforming growth factor beta receptor I",
                    "type": "synonym"
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                {
                    "name": "serine/threonine-protein kinase receptor R4",
                    "type": "synonym"
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                {
                    "name": "transforming growth factor beta receptor I",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor-beta receptor type I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "TGFBR1",
                    "type": "recommended"
                },
                {
                    "name": "AAT5",
                    "type": "synonym"
                },
                {
                    "name": "ACVRLK4",
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                },
                {
                    "name": "ALK-5",
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                },
                {
                    "name": "ALK5",
                    "type": "synonym"
                },
                {
                    "name": "ESS1",
                    "type": "synonym"
                },
                {
                    "name": "LDS1A",
                    "type": "synonym"
                },
                {
                    "name": "LDS1",
                    "type": "synonym"
                },
                {
                    "name": "LDS2A",
                    "type": "synonym"
                },
                {
                    "name": "MSSE",
                    "type": "synonym"
                },
                {
                    "name": "SKR4",
                    "type": "synonym"
                },
                {
                    "name": "TBR-i",
                    "type": "synonym"
                },
                {
                    "name": "TBRI",
                    "type": "synonym"
                },
                {
                    "name": "TGFBR1",
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                },
                {
                    "name": "TGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "tbetaR-I",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050466",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P37173-1",
            "uniprot_ac": "P37173",
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                {
                    "name": "Homo sapiens",
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                }
            ],
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                {
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                },
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                    "name": "2.7.11.30",
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                },
                {
                    "name": "TGF-beta receptor type IIB",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type II",
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                {
                    "name": "TGF-beta receptor type-2 isoform A precursor",
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                {
                    "name": "TGF-beta receptor type-2",
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                {
                    "name": "TGF-beta type II receptor",
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                {
                    "name": "TGFR-2",
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                },
                {
                    "name": "TbetaR-II",
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                },
                {
                    "name": "Transforming growth factor-beta receptor type II",
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                {
                    "name": "transforming growth factor beta receptor II",
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                {
                    "name": "transforming growth factor beta receptor type IIC",
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                {
                    "name": "transforming growth factor, beta receptor II (70/80kDa)",
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                {
                    "name": "transforming growth factor, beta receptor II alpha",
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                    "name": "transforming growth factor, beta receptor II beta",
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                {
                    "name": "transforming growth factor, beta receptor II delta",
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                {
                    "name": "transforming growth factor, beta receptor II epsilon",
                    "type": "synonym"
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                {
                    "name": "transforming growth factor, beta receptor II gamma",
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            ],
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                    "name": "TGFBR2",
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                    "name": "AAT3",
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                    "name": "FAA3",
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                    "name": "LDS2",
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                {
                    "name": "MFS2",
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                {
                    "name": "RIIC",
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                {
                    "name": "TAAD2",
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                {
                    "name": "TBR-ii",
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                {
                    "name": "TBRII",
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                    "name": "TGFBR2",
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                {
                    "name": "TGFR-2",
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                {
                    "name": "TGFbeta-RII",
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                {
                    "name": "tbetaR-II",
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                }
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                }
            ],
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                    "name": "BSC-1 cell growth inhibitor",
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                },
                {
                    "name": "Cetermin",
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                {
                    "name": "G-TSF",
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                {
                    "name": "Glioblastoma-derived T-cell suppressor factor",
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                    "name": "cetermin",
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                {
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                    "name": "prepro-transforming growth factor beta-2",
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                    "name": "transforming growth factor beta-2 proprotein isoform 1 precursor",
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                    "name": "transforming growth factor beta-2 proprotein",
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                }
            ],
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                    "name": "TGFB2",
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                },
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                    "name": "CAEND2",
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                },
                {
                    "name": "G-TSF",
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                },
                {
                    "name": "LDS4",
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                },
                {
                    "name": "TGF-beta2",
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                {
                    "name": "TGFB2",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050466"
}