{
    "disease_id": "DOID:0060964",
    "recommended_name": {
        "id": "DOID:0060964",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060964",
        "name": "Loeys-Dietz syndrome 6",
        "description": "A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0030500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030500",
            "name": "Loeys-Dietz syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0030500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030500",
            "name": "LDS6",
            "description": ""
        },
        {
            "id": "MIM:619656",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619656",
            "name": "Loeys-Dietz syndrome 6",
            "description": "Loeys-Dietz syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060964"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060964",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060964",
            "categories": []
        },
        {
            "id": "MONDO:0030500",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030500",
            "categories": []
        },
        {
            "id": "MIM:619656",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619656",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9I9P9-1",
            "uniprot_ac": "Q9I9P9",
            "uniprot_id": "SMAD2_DANRE",
            "refseq_ac": "NP_001276944",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SMAD family member 2",
                    "type": "recommended"
                },
                {
                    "name": "MAD homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against decapentaplegic homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "SMA- and MAD-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SMAD 2",
                    "type": "synonym"
                },
                {
                    "name": "SMAD family member 2",
                    "type": "synonym"
                },
                {
                    "name": "mothers against DPP homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "mothers against decapentaplegic homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "smad2",
                    "type": "recommended"
                },
                {
                    "name": "fj43c06",
                    "type": "synonym"
                },
                {
                    "name": "madh2",
                    "type": "synonym"
                },
                {
                    "name": "smad2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj43c06",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9I9P9-1",
            "evidence": [
                {
                    "id": "0060964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060964"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62432-1",
            "uniprot_ac": "Q62432",
            "uniprot_id": "SMAD2_MOUSE",
            "refseq_ac": "NP_001239410",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SMAD family member 2",
                    "type": "recommended"
                },
                {
                    "name": "MAD homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Mad-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against decapentaplegic homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "SMAD 2",
                    "type": "synonym"
                },
                {
                    "name": "SMAD family member 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Smad 2",
                    "type": "synonym"
                },
                {
                    "name": "mMad2",
                    "type": "synonym"
                },
                {
                    "name": "mad-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mothers against DPP homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "mothers against decapentaplegic homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smad2",
                    "type": "recommended"
                },
                {
                    "name": "7120426M23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Madh2",
                    "type": "synonym"
                },
                {
                    "name": "Madr2",
                    "type": "synonym"
                },
                {
                    "name": "Smad-2",
                    "type": "synonym"
                },
                {
                    "name": "Smad2",
                    "type": "synonym"
                },
                {
                    "name": "mMad2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62432-1",
            "evidence": [
                {
                    "id": "0060964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060964"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15796-1",
            "uniprot_ac": "Q15796",
            "uniprot_id": "SMAD2_HUMAN",
            "refseq_ac": "NP_001003652",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SMAD family member 2",
                    "type": "recommended"
                },
                {
                    "name": "JV18-1",
                    "type": "synonym"
                },
                {
                    "name": "MAD homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Mad-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against decapentaplegic homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "SMAD 2",
                    "type": "synonym"
                },
                {
                    "name": "SMAD family member 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SMAD, mothers against DPP homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Sma- and Mad-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "hMAD-2",
                    "type": "synonym"
                },
                {
                    "name": "hSMAD2",
                    "type": "synonym"
                },
                {
                    "name": "mother against DPP homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "mothers against decapentaplegic homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMAD2",
                    "type": "recommended"
                },
                {
                    "name": "CHTD8",
                    "type": "synonym"
                },
                {
                    "name": "JV18-1",
                    "type": "synonym"
                },
                {
                    "name": "JV18",
                    "type": "synonym"
                },
                {
                    "name": "LDS6",
                    "type": "synonym"
                },
                {
                    "name": "MADH2",
                    "type": "synonym"
                },
                {
                    "name": "MADR2",
                    "type": "synonym"
                },
                {
                    "name": "SMAD2",
                    "type": "synonym"
                },
                {
                    "name": "hMAD-2",
                    "type": "synonym"
                },
                {
                    "name": "hSMAD2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15796-1",
            "evidence": [
                {
                    "id": "619656",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619656"
                },
                {
                    "id": "0060964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060964"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70436-1",
            "uniprot_ac": "O70436",
            "uniprot_id": "SMAD2_RAT",
            "refseq_ac": "NP_001264379",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SMAD family member 2",
                    "type": "recommended"
                },
                {
                    "name": "MAD homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Mad-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against decapentaplegic homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "SMAD 2",
                    "type": "synonym"
                },
                {
                    "name": "SMAD family member 2",
                    "type": "synonym"
                },
                {
                    "name": "mad-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mothers against DPP homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "mothers against decapentaplegic homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smad2",
                    "type": "recommended"
                },
                {
                    "name": "Smad3",
                    "type": "recommended"
                },
                {
                    "name": "Madh2",
                    "type": "synonym"
                },
                {
                    "name": "Smad2",
                    "type": "synonym"
                }
            ],
            "record_id": "O70436-1",
            "evidence": [
                {
                    "id": "0060964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060964"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O96660-1",
            "uniprot_ac": "O96660",
            "uniprot_id": "SMAD2_DROME",
            "refseq_ac": "NP_001285006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "SMAD family member 2",
                    "type": "recommended"
                },
                {
                    "name": "CG2262-PB",
                    "type": "synonym"
                },
                {
                    "name": "MAD homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against decapentaplegic homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein Smad on X",
                    "type": "synonym"
                },
                {
                    "name": "SMAD 2",
                    "type": "synonym"
                },
                {
                    "name": "Smox-PB",
                    "type": "synonym"
                },
                {
                    "name": "Smox/dSmad2",
                    "type": "synonym"
                },
                {
                    "name": "dSmad2",
                    "type": "synonym"
                },
                {
                    "name": "sisters against dpp",
                    "type": "synonym"
                },
                {
                    "name": "smad on X, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "temporarily deranged",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smox",
                    "type": "recommended"
                },
                {
                    "name": "3",
                    "type": "synonym"
                },
                {
                    "name": "CG2262",
                    "type": "synonym"
                },
                {
                    "name": "DSMAD2",
                    "type": "synonym"
                },
                {
                    "name": "DSmad2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2262",
                    "type": "synonym"
                },
                {
                    "name": "SMAD2",
                    "type": "synonym"
                },
                {
                    "name": "SMOX",
                    "type": "synonym"
                },
                {
                    "name": "Sad",
                    "type": "synonym"
                },
                {
                    "name": "Smad2/3",
                    "type": "synonym"
                },
                {
                    "name": "Smad2",
                    "type": "synonym"
                },
                {
                    "name": "Smad",
                    "type": "synonym"
                },
                {
                    "name": "SmoX",
                    "type": "synonym"
                },
                {
                    "name": "Smox",
                    "type": "synonym"
                },
                {
                    "name": "dSMAD2",
                    "type": "synonym"
                },
                {
                    "name": "dSmad2",
                    "type": "synonym"
                },
                {
                    "name": "dSmad",
                    "type": "synonym"
                },
                {
                    "name": "dsmad2",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0348",
                    "type": "synonym"
                },
                {
                    "name": "sad",
                    "type": "synonym"
                },
                {
                    "name": "smad2",
                    "type": "synonym"
                },
                {
                    "name": "smox",
                    "type": "synonym"
                },
                {
                    "name": "ted",
                    "type": "synonym"
                },
                {
                    "name": "tmp",
                    "type": "synonym"
                }
            ],
            "record_id": "O96660-1",
            "evidence": [
                {
                    "id": "0060964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060964"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99856-1",
            "uniprot_ac": "Q99856",
            "uniprot_id": "ARI3A_HUMAN",
            "refseq_ac": "NP_005215",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AT-rich interactive domain-containing protein 3A",
                    "type": "recommended"
                },
                {
                    "name": "ARID domain-containing 3A",
                    "type": "synonym"
                },
                {
                    "name": "ARID domain-containing protein 3A",
                    "type": "synonym"
                },
                {
                    "name": "AT rich interactive domain 3A (BRIGHT- like) protein",
                    "type": "synonym"
                },
                {
                    "name": "AT rich interactive domain 3A (BRIGHT-like)",
                    "type": "synonym"
                },
                {
                    "name": "AT-rich interactive domain-containing protein 3A",
                    "type": "synonym"
                },
                {
                    "name": "B-cell regulator of IgH transcription",
                    "type": "synonym"
                },
                {
                    "name": "Bright",
                    "type": "synonym"
                },
                {
                    "name": "Dead ringer-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "E2F-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dead ringer-like 1",
                    "type": "synonym"
                },
                {
                    "name": "dead ringer-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARID3A",
                    "type": "recommended"
                },
                {
                    "name": "ARID3A",
                    "type": "synonym"
                },
                {
                    "name": "BRIGHT",
                    "type": "synonym"
                },
                {
                    "name": "DRIL1",
                    "type": "synonym"
                },
                {
                    "name": "DRIL3",
                    "type": "synonym"
                },
                {
                    "name": "DRX",
                    "type": "synonym"
                },
                {
                    "name": "E2FBP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99856-1",
            "evidence": [
                {
                    "id": "0060964",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060964"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060964"
}