{
    "disease_id": "DOID:0070236",
    "recommended_name": {
        "id": "DOID:0070236",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070236",
        "name": "Loeys-Dietz syndrome 5",
        "description": "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24."
    },
    "synonyms": [
        {
            "id": "DOID:0070236",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070236",
            "name": "LDS5",
            "description": ""
        },
        {
            "id": "DOID:0070236",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070236",
            "name": "RNHF",
            "description": ""
        },
        {
            "id": "DOID:0070236",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070236",
            "name": "Reinhoff syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014262",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014262",
            "name": "Rienhoff syndrome",
            "description": "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection."
        },
        {
            "id": "MONDO:0014262",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014262",
            "name": "Loeys-Dietz syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014262",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014262",
            "name": "Rienhoff syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014262",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014262",
            "name": "LDS5",
            "description": ""
        },
        {
            "id": "MONDO:0014262",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014262",
            "name": "Loeys-Dietz syndrome 5",
            "description": ""
        },
        {
            "id": "MIM:615582",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615582",
            "name": "Loeys-Dietz syndrome 5",
            "description": "Loeys-Dietz syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070236"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070236",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070236",
            "categories": []
        },
        {
            "id": "MONDO:0014262",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014262",
            "categories": []
        },
        {
            "id": "MIM:615582",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615582",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q66I23-1",
            "uniprot_ac": "Q66I23",
            "uniprot_id": "Q66I23_DANRE",
            "refseq_ac": "NP_919367",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transforming growth factor beta",
                    "type": "recommended"
                },
                {
                    "name": "protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "tgf beta 3",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-3 proprotein precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tgfb3",
                    "type": "recommended"
                },
                {
                    "name": "tgfb3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc78g09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92058",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66I23-1",
            "evidence": [
                {
                    "id": "0070236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17125-1",
            "uniprot_ac": "P17125",
            "uniprot_id": "TGFB3_MOUSE",
            "refseq_ac": "",
            "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-3 proprotein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgfb3",
                    "type": "recommended"
                }
            ],
            "record_id": "P17125-1",
            "evidence": [
                {
                    "id": "0070236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10600-1",
            "uniprot_ac": "P10600",
            "uniprot_id": "TGFB3_HUMAN",
            "refseq_ac": "NP_001316867",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transforming growth factor beta-3 proprotein",
                    "type": "recommended"
                },
                {
                    "name": "prepro-transforming growth factor beta-3",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-3 proprotein isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-3 proprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TGFB3",
                    "type": "recommended"
                },
                {
                    "name": "ARVD1",
                    "type": "synonym"
                },
                {
                    "name": "ARVD",
                    "type": "synonym"
                },
                {
                    "name": "LDS5",
                    "type": "synonym"
                },
                {
                    "name": "RNHF",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta3",
                    "type": "synonym"
                },
                {
                    "name": "TGFB3",
                    "type": "synonym"
                }
            ],
            "record_id": "P10600-1",
            "evidence": [
                {
                    "id": "615582",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615582"
                },
                {
                    "id": "0070236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07258-1",
            "uniprot_ac": "Q07258",
            "uniprot_id": "TGFB3_RAT",
            "refseq_ac": "NP_037306",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transforming growth factor beta-3 proprotein",
                    "type": "recommended"
                },
                {
                    "name": "TGF-beta-3",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-3 proprotein preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-3 proprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgfb3",
                    "type": "recommended"
                },
                {
                    "name": "TGF-B3",
                    "type": "synonym"
                },
                {
                    "name": "Tgf-b3",
                    "type": "synonym"
                },
                {
                    "name": "Tgfb3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07258-1",
            "evidence": [
                {
                    "id": "0070236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070236"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070236"
}