{
    "disease_id": "DOID:0070234",
    "recommended_name": {
        "id": "DOID:0070234",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070234",
        "name": "Loeys-Dietz syndrome 2",
        "description": "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24."
    },
    "synonyms": [
        {
            "id": "DOID:0070234",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070234",
            "name": "AAT3",
            "description": ""
        },
        {
            "id": "DOID:0070234",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070234",
            "name": "LDS2",
            "description": ""
        },
        {
            "id": "DOID:0070234",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070234",
            "name": "Marfan syndrome type II",
            "description": ""
        },
        {
            "id": "DOID:0070234",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070234",
            "name": "familial throacic aortic aneurysm 3",
            "description": ""
        },
        {
            "id": "MONDO:0012427",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012427",
            "name": "Loeys-Dietz syndrome 2",
            "description": "A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2."
        },
        {
            "id": "MONDO:0012427",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012427",
            "name": "Loeys-Dietz syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012427",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012427",
            "name": "Loeys-Dietz syndrome caused by mutation in TGFBR2",
            "description": ""
        },
        {
            "id": "MONDO:0012427",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012427",
            "name": "Loeys-Dietz syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012427",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012427",
            "name": "Loeys-Dietz syndrome type II",
            "description": ""
        },
        {
            "id": "MONDO:0012427",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012427",
            "name": "TGFBR2 Loeys-Dietz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012427",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012427",
            "name": "LDS2",
            "description": ""
        },
        {
            "id": "MIM:610168",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610168",
            "name": "Loeys-Dietz syndrome 2",
            "description": "Loeys-Dietz syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070234"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070234",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070234",
            "categories": []
        },
        {
            "id": "MONDO:0012427",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012427",
            "categories": []
        },
        {
            "id": "MIM:610168",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610168",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q62312-2",
            "uniprot_ac": "Q62312",
            "uniprot_id": "TGFR2_MOUSE",
            "refseq_ac": "NP_033397",
            "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-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"
                }
            ],
            "record_id": "Q62312-2",
            "evidence": [
                {
                    "id": "0070234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37173-1",
            "uniprot_ac": "P37173",
            "uniprot_id": "TGFR2_HUMAN",
            "refseq_ac": "NP_001020018",
            "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-2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type IIB",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type II",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type-2 isoform A 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 II",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta receptor type IIC",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor, beta receptor II (70/80kDa)",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor, beta receptor II alpha",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor, beta receptor II beta",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor, beta receptor II delta",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor, beta receptor II epsilon",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor, beta receptor II gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TGFBR2",
                    "type": "recommended"
                },
                {
                    "name": "AAT3",
                    "type": "synonym"
                },
                {
                    "name": "FAA3",
                    "type": "synonym"
                },
                {
                    "name": "LDS1B",
                    "type": "synonym"
                },
                {
                    "name": "LDS2B",
                    "type": "synonym"
                },
                {
                    "name": "LDS2",
                    "type": "synonym"
                },
                {
                    "name": "MFS2",
                    "type": "synonym"
                },
                {
                    "name": "RIIC",
                    "type": "synonym"
                },
                {
                    "name": "TAAD2",
                    "type": "synonym"
                },
                {
                    "name": "TBR-ii",
                    "type": "synonym"
                },
                {
                    "name": "TBRII",
                    "type": "synonym"
                },
                {
                    "name": "TGFBR2",
                    "type": "synonym"
                },
                {
                    "name": "TGFR-2",
                    "type": "synonym"
                },
                {
                    "name": "TGFbeta-RII",
                    "type": "synonym"
                },
                {
                    "name": "tbetaR-II",
                    "type": "synonym"
                }
            ],
            "record_id": "P37173-1",
            "evidence": [
                {
                    "id": "610168",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610168"
                },
                {
                    "id": "0070234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38438-1",
            "uniprot_ac": "P38438",
            "uniprot_id": "TGFR2_RAT",
            "refseq_ac": "NP_112394",
            "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-2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type II",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta receptor type-2 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": "tbetaR-II",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta receptor type II",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor, beta receptor IIT",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor, beta receptor II",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor-b type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor-beta type II receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgfbr2",
                    "type": "recommended"
                },
                {
                    "name": "TGF-beta 2",
                    "type": "synonym"
                },
                {
                    "name": "Tgfbr2T",
                    "type": "synonym"
                },
                {
                    "name": "Tgfbr2",
                    "type": "synonym"
                }
            ],
            "record_id": "P38438-1",
            "evidence": [
                {
                    "id": "0070234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070234"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070234"
}