{
    "disease_id": "DOID:0070235",
    "recommended_name": {
        "id": "DOID:0070235",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070235",
        "name": "Loeys-Dietz syndrome 1",
        "description": "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070235",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070235",
            "name": "AAT5",
            "description": ""
        },
        {
            "id": "DOID:0070235",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070235",
            "name": "Furlong syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070235",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070235",
            "name": "LDS1",
            "description": ""
        },
        {
            "id": "DOID:0070235",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070235",
            "name": "familial throacic aortic aneurysm 5",
            "description": ""
        },
        {
            "id": "MONDO:0012212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012212",
            "name": "Loeys-Dietz syndrome 1",
            "description": "A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones."
        },
        {
            "id": "MONDO:0012212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012212",
            "name": "Furlong syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012212",
            "name": "Loeys-Dietz syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0012212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012212",
            "name": "Loeys-Dietz syndrome caused by mutation in TGFBR1",
            "description": ""
        },
        {
            "id": "MONDO:0012212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012212",
            "name": "Loeys-Dietz syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012212",
            "name": "TGFBR1 Loeys-Dietz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012212",
            "name": "LDS1",
            "description": ""
        },
        {
            "id": "MIM:609192",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609192",
            "name": "Loeys-Dietz syndrome 1",
            "description": "Loeys-Dietz syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070235"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070235",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070235",
            "categories": []
        },
        {
            "id": "MONDO:0012212",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012212",
            "categories": []
        },
        {
            "id": "MIM:609192",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609192",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q64729-1",
            "uniprot_ac": "Q64729",
            "uniprot_id": "TGFR1_MOUSE",
            "refseq_ac": "NP_001299797",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "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"
                }
            ],
            "gene_names": [
                {
                    "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"
                }
            ],
            "record_id": "Q64729-1",
            "evidence": [
                {
                    "id": "0070235",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070235"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36897-1",
            "uniprot_ac": "P36897",
            "uniprot_id": "TGFR1_HUMAN",
            "refseq_ac": "NP_001124388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "TGF-beta receptor type-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "ALK-5",
                    "type": "synonym"
                },
                {
                    "name": "ALK5",
                    "type": "synonym"
                },
                {
                    "name": "Activin A receptor type II-like protein kinase of 53kD",
                    "type": "synonym"
                },
                {
                    "name": "Activin receptor-like kinase 5",
                    "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 2 precursor",
                    "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 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"
                },
                {
                    "name": "mutant transforming growth factor beta receptor I",
                    "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"
                }
            ],
            "gene_names": [
                {
                    "name": "TGFBR1",
                    "type": "recommended"
                },
                {
                    "name": "AAT5",
                    "type": "synonym"
                },
                {
                    "name": "ACVRLK4",
                    "type": "synonym"
                },
                {
                    "name": "ALK-5",
                    "type": "synonym"
                },
                {
                    "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",
                    "type": "synonym"
                },
                {
                    "name": "TGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "tbetaR-I",
                    "type": "synonym"
                }
            ],
            "record_id": "P36897-1",
            "evidence": [
                {
                    "id": "609192",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609192"
                },
                {
                    "id": "0070235",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070235"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P80204-1",
            "uniprot_ac": "P80204",
            "uniprot_id": "TGFR1_RAT",
            "refseq_ac": "NP_001416585",
            "glycoprotein": "yes",
            "species": [
                {
                    "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"
                }
            ],
            "gene_names": [
                {
                    "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"
                }
            ],
            "record_id": "P80204-1",
            "evidence": [
                {
                    "id": "0070235",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070235"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z7L8-1",
            "uniprot_ac": "A1Z7L8",
            "uniprot_id": "TGFR1_DROME",
            "refseq_ac": "NP_001163092",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor protein serine/threonine kinase babo",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "CG8224-PC",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein baboon",
                    "type": "synonym"
                },
                {
                    "name": "activin A receptor 45A",
                    "type": "synonym"
                },
                {
                    "name": "activin type I receptor",
                    "type": "synonym"
                },
                {
                    "name": "babo-PC",
                    "type": "synonym"
                },
                {
                    "name": "baboa",
                    "type": "synonym"
                },
                {
                    "name": "baboon, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "baboon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "babo",
                    "type": "recommended"
                },
                {
                    "name": "ATR-1",
                    "type": "synonym"
                },
                {
                    "name": "ATR-I",
                    "type": "synonym"
                },
                {
                    "name": "Atf1",
                    "type": "synonym"
                },
                {
                    "name": "Atr-1",
                    "type": "synonym"
                },
                {
                    "name": "Atr-I",
                    "type": "synonym"
                },
                {
                    "name": "Atr45A",
                    "type": "synonym"
                },
                {
                    "name": "AtrI",
                    "type": "synonym"
                },
                {
                    "name": "BABO",
                    "type": "synonym"
                },
                {
                    "name": "BaboA",
                    "type": "synonym"
                },
                {
                    "name": "Baboon",
                    "type": "synonym"
                },
                {
                    "name": "Babo",
                    "type": "synonym"
                },
                {
                    "name": "Bab",
                    "type": "synonym"
                },
                {
                    "name": "CG8224",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8224",
                    "type": "synonym"
                },
                {
                    "name": "Gprk-3",
                    "type": "synonym"
                },
                {
                    "name": "Gprk3",
                    "type": "synonym"
                },
                {
                    "name": "STK-E",
                    "type": "synonym"
                },
                {
                    "name": "atr-I",
                    "type": "synonym"
                },
                {
                    "name": "babo",
                    "type": "synonym"
                },
                {
                    "name": "l(2)44Fd",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k16912",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z7L8-1",
            "evidence": [
                {
                    "id": "0070235",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070235"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070235"
}