{
    "disease_id": "DOID:0110070",
    "recommended_name": {
        "id": "DOID:0110070",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110070",
        "name": "arrhythmogenic right ventricular dysplasia 1",
        "description": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110070",
            "name": "ARVC1",
            "description": ""
        },
        {
            "id": "DOID:0110070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110070",
            "name": "Uhl anomaly",
            "description": ""
        },
        {
            "id": "DOID:0110070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110070",
            "name": "arrhythmogenic right ventricular cardiomyopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0007152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007152",
            "name": "arrhythmogenic right ventricular dysplasia 1",
            "description": "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene."
        },
        {
            "id": "MONDO:0007152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007152",
            "name": "ARVC1",
            "description": ""
        },
        {
            "id": "MONDO:0007152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007152",
            "name": "ARVD1",
            "description": ""
        },
        {
            "id": "MONDO:0007152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007152",
            "name": "TGFB3 arrhythmogenic right ventricular cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0007152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007152",
            "name": "arrhythmogenic right ventricular cardiomyopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0007152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007152",
            "name": "arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3",
            "description": ""
        },
        {
            "id": "MONDO:0007152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007152",
            "name": "arrhythmogenic right ventricular dysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007152",
            "name": "arrhythmogenic right ventricular dysplasia, familial, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007152",
            "name": "familial arrhythmogenic right ventricular dysplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0007152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007152",
            "name": "arrhythmogenic right ventricular dysplasia, familial, 1",
            "description": ""
        },
        {
            "id": "MIM:107970",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/107970",
            "name": "Arrhythmogenic right ventricular dysplasia, familial, 1",
            "description": "Arrhythmogenic right ventricular dysplasia, familial, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110070"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110070",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110070",
            "categories": []
        },
        {
            "id": "MONDO:0007152",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007152",
            "categories": []
        },
        {
            "id": "MIM:107970",
            "database": "MIM",
            "url": "https://www.omim.org/entry/107970",
            "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": "0110070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110070"
                }
            ]
        },
        {
            "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": "0110070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110070"
                }
            ]
        },
        {
            "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": "107970",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/107970"
                },
                {
                    "id": "0110070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110070"
                }
            ]
        },
        {
            "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": "0110070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110070"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110070"
}