{
    "disease_id": "DOID:0080977",
    "recommended_name": {
        "id": "DOID:0080977",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080977",
        "name": "aortic valve disease 3",
        "description": "A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0032783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032783",
            "name": "aortic valve disease 3",
            "description": "Any aortic valve disease characterized by aortic stenosis and/or bicuspid aortic valve in which the cause of the disease is a mutation in the ROBO4 gene."
        },
        {
            "id": "MONDO:0032783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032783",
            "name": "AOVD3",
            "description": ""
        },
        {
            "id": "MIM:618496",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618496",
            "name": "Aortic valve disease 3",
            "description": "Aortic valve disease 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080977"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080977",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080977",
            "categories": []
        },
        {
            "id": "MONDO:0032783",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032783",
            "categories": []
        },
        {
            "id": "MIM:618496",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618496",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1RE66-1",
            "uniprot_ac": "F1RE66",
            "uniprot_id": "F1RE66_DANRE",
            "refseq_ac": "XP_689255",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Roundabout homolog 4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "roundabout homolog 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "robo4",
                    "type": "recommended"
                },
                {
                    "name": "robo4",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RE66-1",
            "evidence": [
                {
                    "id": "0080977",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080977"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C310-1",
            "uniprot_ac": "Q8C310",
            "uniprot_id": "ROBO4_MOUSE",
            "refseq_ac": "NP_001296319",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Roundabout homolog 4",
                    "type": "recommended"
                },
                {
                    "name": "Magic roundabout",
                    "type": "synonym"
                },
                {
                    "name": "roundabout homolog 4 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "roundabout homolog 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Robo4",
                    "type": "recommended"
                },
                {
                    "name": "1200012D01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Robo4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C310-1",
            "evidence": [
                {
                    "id": "0080977",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080977"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WZ75-1",
            "uniprot_ac": "Q8WZ75",
            "uniprot_id": "ROBO4_HUMAN",
            "refseq_ac": "NP_001288017",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Roundabout homolog 4",
                    "type": "recommended"
                },
                {
                    "name": "Magic roundabout",
                    "type": "synonym"
                },
                {
                    "name": "roundabout homolog 4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "roundabout homolog 4, magic roundabout",
                    "type": "synonym"
                },
                {
                    "name": "roundabout, axon guidance receptor, homolog 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ROBO4",
                    "type": "recommended"
                },
                {
                    "name": "AOVD3",
                    "type": "synonym"
                },
                {
                    "name": "ECSM4",
                    "type": "synonym"
                },
                {
                    "name": "MRB",
                    "type": "synonym"
                },
                {
                    "name": "PRO3674",
                    "type": "synonym"
                },
                {
                    "name": "ROBO4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WZ75-1",
            "evidence": [
                {
                    "id": "618496",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618496"
                },
                {
                    "id": "0080977",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080977"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80W87-1",
            "uniprot_ac": "Q80W87",
            "uniprot_id": "ROBO4_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Roundabout homolog 4",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Robo4",
                    "type": "recommended"
                },
                {
                    "name": "LOC100911068",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80W87-1",
            "evidence": [
                {
                    "id": "0080977",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080977"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080977"
}