{
    "disease_id": "DOID:0050645",
    "recommended_name": {
        "id": "DOID:0050645",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050645",
        "name": "arterial tortuosity syndrome",
        "description": "A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta."
    },
    "synonyms": [
        {
            "id": "MONDO:0008818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008818",
            "name": "arterial tortuosity syndrome",
            "description": "Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries."
        },
        {
            "id": "MONDO:0008818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008818",
            "name": "arterial tortuosity syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008818",
            "name": "ATS",
            "description": ""
        },
        {
            "id": "MIM:208050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/208050",
            "name": "Arterial tortuosity syndrome",
            "description": "Arterial tortuosity syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050645"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050645",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050645",
            "categories": []
        },
        {
            "id": "MONDO:0008818",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008818",
            "categories": []
        },
        {
            "id": "MIM:208050",
            "database": "MIM",
            "url": "https://www.omim.org/entry/208050",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "F1R0H0-1",
            "uniprot_ac": "F1R0H0",
            "uniprot_id": "GTR10_DANRE",
            "refseq_ac": "NP_001104633",
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
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                    "type": "recommended"
                },
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                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "Glut10",
                    "type": "synonym"
                },
                {
                    "name": "glucose transporter type 10",
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                {
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                },
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                    "type": "synonym"
                },
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                }
            ],
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                {
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                    "type": "recommended"
                },
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                },
                {
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                {
                    "name": "zgc:171488",
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                }
            ],
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                {
                    "id": "0050645",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050645"
                }
            ]
        },
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            "glycoprotein": "no",
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                }
            ],
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                },
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                    "id": "0050645",
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                }
            ]
        },
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                }
            ],
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                    "type": "recommended"
                },
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                {
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            ],
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            ],
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            ]
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                }
            ],
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                    "type": "recommended"
                },
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                },
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                    "name": "Crossover junction endonuclease MUS81",
                    "type": "synonym"
                },
                {
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                },
                {
                    "name": "crossover junction endonuclease MUS81",
                    "type": "synonym"
                },
                {
                    "name": "structure-specific endonuclease subunit MUS81",
                    "type": "synonym"
                }
            ],
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                {
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                    "type": "recommended"
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                {
                    "name": "1200008A18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mus81",
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                }
            ],
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                {
                    "id": "0050645",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050645"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVJ9-1",
            "uniprot_ac": "Q9WVJ9",
            "uniprot_id": "FBLN4_MOUSE",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "EGF-containing fibulin-like extracellular matrix protein 2",
                    "type": "recommended"
                },
                {
                    "name": "EGF-containing fibulin-like extracellular matrix protein 2 (Efemp2)",
                    "type": "synonym"
                },
                {
                    "name": "EGF-containing fibulin-like extracellular matrix protein 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "FIBL-4",
                    "type": "synonym"
                },
                {
                    "name": "Fibulin-4",
                    "type": "synonym"
                },
                {
                    "name": "Mutant p53-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "fibulin-4",
                    "type": "synonym"
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                {
                    "name": "mutant p53-binding protein 1",
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                }
            ],
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                },
                {
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                },
                {
                    "name": "Fbln4",
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                },
                {
                    "name": "MBP1",
                    "type": "synonym"
                },
                {
                    "name": "Mbp1",
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                }
            ],
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                {
                    "id": "0050645",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050645"
                }
            ]
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        {
            "uniprot_canonical_ac": "O95528-1",
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                }
            ],
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                {
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                },
                {
                    "name": "ATS",
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                },
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                {
                    "id": "0050645",
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                }
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            "uniprot_canonical_ac": "Q04149-1",
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                    "taxid": 559292,
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            ],
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                {
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                {
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            ],
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                {
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                {
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                {
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                    "id": "0050645",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050645"
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                }
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            "uniprot_canonical_ac": "P54370-1",
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                }
            ],
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                    "name": "Ornithine decarboxylase antizyme 1",
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                },
                {
                    "name": "ornithine decarboxylase antizyme 1 isoform 1",
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                {
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                    "id": "0050645",
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                    "name": "Drosophila melanogaster",
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                }
            ],
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                {
                    "name": "EG:BACR7A4.16",
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                    "name": "Mus81",
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                {
                    "name": "mus81",
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                {
                    "id": "0050645",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050645"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q96NY9-1",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Structure-specific endonuclease subunit MUS81",
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                    "name": "3.1.22.-",
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                },
                {
                    "name": "Crossover junction endonuclease MUS81",
                    "type": "synonym"
                },
                {
                    "name": "MUS81 endonuclease homolog",
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                },
                {
                    "name": "SLX3 structure-specific endonuclease subunit homolog",
                    "type": "synonym"
                },
                {
                    "name": "crossover junction endonuclease MUS81",
                    "type": "synonym"
                },
                {
                    "name": "structure-specific endonuclease subunit MUS81 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "structure-specific endonuclease subunit MUS81",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MUS81",
                    "type": "recommended"
                },
                {
                    "name": "MUS81",
                    "type": "synonym"
                },
                {
                    "name": "SLX3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96NY9-1",
            "evidence": [
                {
                    "id": "0050645",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050645"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95967-1",
            "uniprot_ac": "O95967",
            "uniprot_id": "FBLN4_HUMAN",
            "refseq_ac": "NP_058634",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "EGF-containing fibulin-like extracellular matrix protein 2",
                    "type": "recommended"
                },
                {
                    "name": "EGF containing fibulin extracellular matrix protein 2",
                    "type": "synonym"
                },
                {
                    "name": "EGF containing fibulin like extracellular matrix protein 2",
                    "type": "synonym"
                },
                {
                    "name": "EGF-containing fibulin-like extracellular matrix protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "FIBL-4",
                    "type": "synonym"
                },
                {
                    "name": "Fibulin-4",
                    "type": "synonym"
                },
                {
                    "name": "Protein UPH1",
                    "type": "synonym"
                },
                {
                    "name": "fibulin 4",
                    "type": "synonym"
                },
                {
                    "name": "mutant p53 binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EFEMP2",
                    "type": "recommended"
                },
                {
                    "name": "ARCL1B",
                    "type": "synonym"
                },
                {
                    "name": "EFEMP2",
                    "type": "synonym"
                },
                {
                    "name": "FBLN4",
                    "type": "synonym"
                },
                {
                    "name": "MBP1",
                    "type": "synonym"
                },
                {
                    "name": "PRO226",
                    "type": "synonym"
                },
                {
                    "name": "UPH1",
                    "type": "synonym"
                }
            ],
            "record_id": "O95967-1",
            "evidence": [
                {
                    "id": "0050645",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050645"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050645"
}