{
    "disease_id": "DOID:0070237",
    "recommended_name": {
        "id": "DOID:0070237",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070237",
        "name": "Loeys-Dietz syndrome 3",
        "description": "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q."
    },
    "synonyms": [
        {
            "id": "DOID:0070237",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070237",
            "name": "LDS1C",
            "description": ""
        },
        {
            "id": "DOID:0070237",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070237",
            "name": "LDS3",
            "description": ""
        },
        {
            "id": "DOID:0070237",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070237",
            "name": "Loeys-Dietz syndrome type 1C",
            "description": ""
        },
        {
            "id": "DOID:0070237",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070237",
            "name": "Loeys-Dietz syndrome with osteoarthritis",
            "description": ""
        },
        {
            "id": "DOID:0070237",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070237",
            "name": "aneurysms-osteoarthritis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013426",
            "name": "aneurysm-osteoarthritis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013426",
            "name": "Loeys-Dietz syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013426",
            "name": "aneurysm-osteoarthritis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013426",
            "name": "LDS3",
            "description": ""
        },
        {
            "id": "MONDO:0013426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013426",
            "name": "Loeys-Dietz syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013426",
            "name": "Loeys-Dietz syndrome, type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0013426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013426",
            "name": "Loeys-Dietz syndrome, type 1C (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0013426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013426",
            "name": "Loeys-Dietz syndrome, type 1C, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0013426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013426",
            "name": "Loeys-Dietz syndrome, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013426",
            "name": "aneurysm - osteoarthritis syndrome",
            "description": ""
        },
        {
            "id": "MIM:613795",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613795",
            "name": "Loeys-Dietz syndrome 3",
            "description": "Loeys-Dietz syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070237"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070237",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070237",
            "categories": []
        },
        {
            "id": "MONDO:0013426",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013426",
            "categories": []
        },
        {
            "id": "MIM:613795",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613795",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BUN5-1",
            "uniprot_ac": "Q8BUN5",
            "uniprot_id": "SMAD3_MOUSE",
            "refseq_ac": "NP_058049",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "MAD homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "Mad3",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against decapentaplegic homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "SMAD 3",
                    "type": "synonym"
                },
                {
                    "name": "SMAD family member 3",
                    "type": "synonym"
                },
                {
                    "name": "Smad 3",
                    "type": "synonym"
                },
                {
                    "name": "mMad3",
                    "type": "synonym"
                },
                {
                    "name": "mad3",
                    "type": "synonym"
                },
                {
                    "name": "mothers against DPP homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "mothers against decapentaplegic homolog 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smad3",
                    "type": "recommended"
                },
                {
                    "name": "Madh3",
                    "type": "synonym"
                },
                {
                    "name": "Smad3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BUN5-1",
            "evidence": [
                {
                    "id": "0070237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070237"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P84022-1",
            "uniprot_ac": "P84022",
            "uniprot_id": "SMAD3_HUMAN",
            "refseq_ac": "NP_001138574",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "JV15-2",
                    "type": "synonym"
                },
                {
                    "name": "MAD homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "MAD, mothers against decapentaplegic homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "Mad3",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against decapentaplegic homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "SMA- and MAD-related protein 3",
                    "type": "synonym"
                },
                {
                    "name": "SMAD 3",
                    "type": "synonym"
                },
                {
                    "name": "SMAD family member 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "SMAD, mothers against DPP homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "hMAD-3",
                    "type": "synonym"
                },
                {
                    "name": "hSMAD3",
                    "type": "synonym"
                },
                {
                    "name": "mad homolog JV15-2",
                    "type": "synonym"
                },
                {
                    "name": "mad protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "mothers against DPP homolog 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMAD3",
                    "type": "recommended"
                },
                {
                    "name": "HSPC193",
                    "type": "synonym"
                },
                {
                    "name": "HsT17436",
                    "type": "synonym"
                },
                {
                    "name": "JV15-2",
                    "type": "synonym"
                },
                {
                    "name": "LDS1C",
                    "type": "synonym"
                },
                {
                    "name": "LDS3",
                    "type": "synonym"
                },
                {
                    "name": "MADH3",
                    "type": "synonym"
                },
                {
                    "name": "SMAD3",
                    "type": "synonym"
                },
                {
                    "name": "hMAD-3",
                    "type": "synonym"
                },
                {
                    "name": "hSMAD3",
                    "type": "synonym"
                },
                {
                    "name": "mad3",
                    "type": "synonym"
                }
            ],
            "record_id": "P84022-1",
            "evidence": [
                {
                    "id": "613795",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613795"
                },
                {
                    "id": "0070237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070237"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P84025-1",
            "uniprot_ac": "P84025",
            "uniprot_id": "SMAD3_RAT",
            "refseq_ac": "NP_037227",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "MAD (mothers against decapentaplegic, Drosophila) homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "MAD homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "Mad3",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against decapentaplegic homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "SMAD 3",
                    "type": "synonym"
                },
                {
                    "name": "SMAD family member 3",
                    "type": "synonym"
                },
                {
                    "name": "mothers against DPP homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "mothers against decapentaplegic homolog 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smad3",
                    "type": "recommended"
                },
                {
                    "name": "Madh3",
                    "type": "synonym"
                },
                {
                    "name": "Smad 3",
                    "type": "synonym"
                },
                {
                    "name": "Smad3",
                    "type": "synonym"
                },
                {
                    "name": "mad3",
                    "type": "synonym"
                }
            ],
            "record_id": "P84025-1",
            "evidence": [
                {
                    "id": "0070237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070237"
                }
            ]
        },
        {
            "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",
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                {
                    "id": "0070237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070237"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13474-1",
            "uniprot_ac": "Q13474",
            "uniprot_id": "DRP2_HUMAN",
            "refseq_ac": "NP_001164655",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dystrophin-related protein 2",
                    "type": "recommended"
                },
                {
                    "name": "DRP-2",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin-related protein 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DRP2",
                    "type": "recommended"
                },
                {
                    "name": "DRP-2",
                    "type": "synonym"
                },
                {
                    "name": "DRP2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13474-1",
            "evidence": [
                {
                    "id": "0070237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070237"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070237"
}