{
    "disease_id": "DOID:0080333",
    "recommended_name": {
        "id": "DOID:0080333",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080333",
        "name": "aortic valve disease 1",
        "description": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "MONDO:0024523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024523",
            "name": "aortic valve disease 1",
            "description": "Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene."
        },
        {
            "id": "MONDO:0024523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024523",
            "name": "AOVD1",
            "description": ""
        },
        {
            "id": "MONDO:0024523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024523",
            "name": "NOTCH1 aortic valve disease",
            "description": ""
        },
        {
            "id": "MONDO:0024523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024523",
            "name": "Notch1 aortic valve disease",
            "description": ""
        },
        {
            "id": "MONDO:0024523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024523",
            "name": "aortic valve disease 1",
            "description": ""
        },
        {
            "id": "MONDO:0024523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024523",
            "name": "aortic valve disease caused by mutation in NOTCH1",
            "description": ""
        },
        {
            "id": "MONDO:0024523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024523",
            "name": "aortic valve disease caused by mutation in Notch1",
            "description": ""
        },
        {
            "id": "MIM:109730",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/109730",
            "name": "Aortic valve disease 1",
            "description": "Aortic valve disease 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080333"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080333",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080333",
            "categories": []
        },
        {
            "id": "MONDO:0024523",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024523",
            "categories": []
        },
        {
            "id": "MIM:109730",
            "database": "MIM",
            "url": "https://www.omim.org/entry/109730",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BFY6-1",
            "uniprot_ac": "A0A8M2BFY6",
            "uniprot_id": "A0A8M2BFY6_DANRE",
            "refseq_ac": "XP_073807185",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic locus notch homolog protein 1",
                    "type": "recommended"
                },
                {
                    "name": "neurogenic locus notch homolog protein 1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "notch1b",
                    "type": "recommended"
                },
                {
                    "name": "etID309871.5",
                    "type": "synonym"
                },
                {
                    "name": "notch1b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc55e11",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BFY6-1",
            "evidence": [
                {
                    "id": "0080333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46530-1",
            "uniprot_ac": "P46530",
            "uniprot_id": "NOTC1_DANRE",
            "refseq_ac": "NP_571516",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic locus notch homolog protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Notch 1",
                    "type": "synonym"
                },
                {
                    "name": "deadly seven",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic locus notch homolog protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic locus notch homolog protein 1",
                    "type": "synonym"
                },
                {
                    "name": "notch 1a",
                    "type": "synonym"
                },
                {
                    "name": "notch 1",
                    "type": "synonym"
                },
                {
                    "name": "notch homolog 1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "notch1a",
                    "type": "recommended"
                },
                {
                    "name": "des",
                    "type": "synonym"
                },
                {
                    "name": "n1a",
                    "type": "synonym"
                },
                {
                    "name": "notch1a",
                    "type": "synonym"
                },
                {
                    "name": "notch",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc01e02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc37a05",
                    "type": "synonym"
                }
            ],
            "record_id": "P46530-1",
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                {
                    "id": "0080333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01705-1",
            "uniprot_ac": "Q01705",
            "uniprot_id": "NOTC1_MOUSE",
            "refseq_ac": "NP_032740",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic locus notch homolog protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Motch A",
                    "type": "synonym"
                },
                {
                    "name": "Notch 1",
                    "type": "synonym"
                },
                {
                    "name": "Notch gene homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "mT14",
                    "type": "synonym"
                },
                {
                    "name": "major type A protein",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic locus notch homolog protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic locus notch homolog protein 1",
                    "type": "synonym"
                },
                {
                    "name": "p300",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Notch1",
                    "type": "recommended"
                },
                {
                    "name": "9930111A19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mis6",
                    "type": "synonym"
                },
                {
                    "name": "Motch",
                    "type": "synonym"
                },
                {
                    "name": "N1",
                    "type": "synonym"
                },
                {
                    "name": "Notch1",
                    "type": "synonym"
                },
                {
                    "name": "Tan1",
                    "type": "synonym"
                },
                {
                    "name": "lin-12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01705-1",
            "evidence": [
                {
                    "id": "0080333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06802-1",
            "uniprot_ac": "P06802",
            "uniprot_id": "ENPP1_MOUSE",
            "refseq_ac": "NP_001295256",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ectonucleotide pyrophosphatase/phosphodiesterase family member 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.1",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.9",
                    "type": "synonym"
                },
                {
                    "name": "Alkaline phosphodiesterase I",
                    "type": "synonym"
                },
                {
                    "name": "E-NPP 1",
                    "type": "synonym"
                },
                {
                    "name": "Ly-41",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte antigen 41",
                    "type": "synonym"
                },
                {
                    "name": "NPPase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleotide diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleotide pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphodiesterase I/nucleotide pyrophosphatase 1",
                    "type": "synonym"
                },
                {
                    "name": "Plasma-cell membrane glycoprotein PC-1",
                    "type": "synonym"
                },
                {
                    "name": "alkaline phosphodiesterase I",
                    "type": "synonym"
                },
                {
                    "name": "ectonucleotide pyrophosphatase/phosphodiesterase family member 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ectonucleotide pyrophosphatase/phosphodiesterase family member 1",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte antigen 41",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase I/nucleotide pyrophosphatase 1",
                    "type": "synonym"
                },
                {
                    "name": "plasma-cell membrane glycoprotein PC-1",
                    "type": "synonym"
                },
                {
                    "name": "tiptoe walking",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Enpp1",
                    "type": "recommended"
                },
                {
                    "name": "4833416E15Rik",
                    "type": "synonym"
                },
                {
                    "name": "CD203c",
                    "type": "synonym"
                },
                {
                    "name": "E-NPP 1",
                    "type": "synonym"
                },
                {
                    "name": "E-NPP1",
                    "type": "synonym"
                },
                {
                    "name": "Enpp1",
                    "type": "synonym"
                },
                {
                    "name": "Ly-41",
                    "type": "synonym"
                },
                {
                    "name": "M6S1",
                    "type": "synonym"
                },
                {
                    "name": "NPP1",
                    "type": "synonym"
                },
                {
                    "name": "Npps",
                    "type": "synonym"
                },
                {
                    "name": "PC-1",
                    "type": "synonym"
                },
                {
                    "name": "Pc1",
                    "type": "synonym"
                },
                {
                    "name": "Pca-1",
                    "type": "synonym"
                },
                {
                    "name": "Pca",
                    "type": "synonym"
                },
                {
                    "name": "Pdnp1",
                    "type": "synonym"
                },
                {
                    "name": "ttw",
                    "type": "synonym"
                },
                {
                    "name": "twy",
                    "type": "synonym"
                }
            ],
            "record_id": "P06802-1",
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                {
                    "id": "0080333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08505-1",
            "uniprot_ac": "P08505",
            "uniprot_id": "IL6_MOUSE",
            "refseq_ac": "NP_001300983",
            "glycoprotein": "no",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-6",
                    "type": "recommended"
                },
                {
                    "name": "B-cell hybridoma growth factor",
                    "type": "synonym"
                },
                {
                    "name": "IL-6",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin HP-1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin HP-1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-6 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Il6",
                    "type": "recommended"
                },
                {
                    "name": "Il-6",
                    "type": "synonym"
                },
                {
                    "name": "Il6",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46531-1",
            "uniprot_ac": "P46531",
            "uniprot_id": "NOTC1_HUMAN",
            "refseq_ac": "NP_060087",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic locus notch homolog protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Notch 1",
                    "type": "synonym"
                },
                {
                    "name": "Notch homolog 1, translocation-associated",
                    "type": "synonym"
                },
                {
                    "name": "Translocation-associated notch protein TAN-1",
                    "type": "synonym"
                },
                {
                    "name": "hN1",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic locus notch homolog protein 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic locus notch homolog protein 1",
                    "type": "synonym"
                },
                {
                    "name": "notch 1",
                    "type": "synonym"
                },
                {
                    "name": "translocation-associated notch protein TAN-1",
                    "type": "synonym"
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            ],
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                {
                    "name": "NOTCH1",
                    "type": "recommended"
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                {
                    "name": "AOS5",
                    "type": "synonym"
                },
                {
                    "name": "AOVD1",
                    "type": "synonym"
                },
                {
                    "name": "NOTCH1",
                    "type": "synonym"
                },
                {
                    "name": "TAN1",
                    "type": "synonym"
                },
                {
                    "name": "hN1",
                    "type": "synonym"
                }
            ],
            "record_id": "P46531-1",
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                {
                    "id": "109730",
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                    "url": "https://www.omim.org/entry/109730"
                },
                {
                    "id": "0080333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080333"
                }
            ]
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            "uniprot_canonical_ac": "P39997-1",
            "uniprot_ac": "P39997",
            "uniprot_id": "NPP2_YEAST",
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            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ectonucleotide pyrophosphatase/phosphodiesterase 2",
                    "type": "recommended"
                },
                {
                    "name": "E-NPP 2",
                    "type": "synonym"
                },
                {
                    "name": "Nucleotide diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide diphosphatase/phosphodiesterase NPP2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "NPP2",
                    "type": "recommended"
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                {
                    "name": "NPP2",
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            "record_id": "P39997-1",
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                    "id": "0080333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080333"
                }
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        {
            "uniprot_canonical_ac": "P25353-1",
            "uniprot_ac": "P25353",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ectonucleotide pyrophosphatase/phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "E-NPP 1",
                    "type": "synonym"
                },
                {
                    "name": "Nucleotide diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide diphosphatase/phosphodiesterase NPP1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "NPP1",
                    "type": "recommended"
                },
                {
                    "name": "NPP1",
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                },
                {
                    "name": "YCR246",
                    "type": "synonym"
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                {
                    "name": "YCR26C",
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                    "id": "0080333",
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            "uniprot_ac": "Q924C3",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Ectonucleotide pyrophosphatase/phosphodiesterase family member 1",
                    "type": "recommended"
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                    "name": "3.1.4.1",
                    "type": "synonym"
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                {
                    "name": "3.6.1.9",
                    "type": "synonym"
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                {
                    "name": "Alkaline phosphodiesterase I",
                    "type": "synonym"
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                {
                    "name": "E-NPP 1",
                    "type": "synonym"
                },
                {
                    "name": "NPPase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleotide diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleotide pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphodiesterase I/nucleotide pyrophosphatase 1",
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                },
                {
                    "name": "Plasma-cell membrane glycoprotein PC-1",
                    "type": "synonym"
                },
                {
                    "name": "alkaline phosphodiesterase I",
                    "type": "synonym"
                },
                {
                    "name": "ectonucleotide pyrophosphatase/phosphodiesterase family member 1",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase I/nucleotide pyrophosphatase 1",
                    "type": "synonym"
                },
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                    "name": "plasma-cell membrane glycoprotein PC-1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Enpp1",
                    "type": "recommended"
                },
                {
                    "name": "Enpp1",
                    "type": "synonym"
                },
                {
                    "name": "Npps",
                    "type": "synonym"
                },
                {
                    "name": "Pc1",
                    "type": "synonym"
                },
                {
                    "name": "Pdnp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924C3-1",
            "evidence": [
                {
                    "id": "0080333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07008-1",
            "uniprot_ac": "Q07008",
            "uniprot_id": "NOTC1_RAT",
            "refseq_ac": "NP_001099191",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic locus notch homolog protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Drosophila Notch homolog 1 (controlling the the ectodermal and neural cell fate in Drosophila)",
                    "type": "synonym"
                },
                {
                    "name": "Notch 1",
                    "type": "synonym"
                },
                {
                    "name": "Notch gene homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic locus notch homolog protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic locus notch homolog protein 1",
                    "type": "synonym"
                },
                {
                    "name": "notch 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Notch1",
                    "type": "recommended"
                },
                {
                    "name": "NOTCH",
                    "type": "synonym"
                },
                {
                    "name": "Notch1",
                    "type": "synonym"
                },
                {
                    "name": "TAN1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07008-1",
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                {
                    "id": "0080333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20607-1",
            "uniprot_ac": "P20607",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-6",
                    "type": "recommended"
                },
                {
                    "name": "IL-6",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin 6 (interferon, beta 2)",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-6 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il6",
                    "type": "recommended"
                },
                {
                    "name": "ILg6",
                    "type": "synonym"
                },
                {
                    "name": "Ifnb2",
                    "type": "synonym"
                },
                {
                    "name": "Il-6",
                    "type": "synonym"
                },
                {
                    "name": "Il6",
                    "type": "synonym"
                }
            ],
            "record_id": "P20607-1",
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                {
                    "id": "0080333",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07207-1",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic locus Notch protein",
                    "type": "recommended"
                },
                {
                    "name": "CG3936-PB",
                    "type": "synonym"
                },
                {
                    "name": "N-PB",
                    "type": "synonym"
                },
                {
                    "name": "NICD",
                    "type": "synonym"
                },
                {
                    "name": "abruptex",
                    "type": "synonym"
                },
                {
                    "name": "chopped",
                    "type": "synonym"
                },
                {
                    "name": "confluens",
                    "type": "synonym"
                },
                {
                    "name": "dNotch",
                    "type": "synonym"
                },
                {
                    "name": "facet",
                    "type": "synonym"
                },
                {
                    "name": "notch, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "notchoid",
                    "type": "synonym"
                },
                {
                    "name": "split",
                    "type": "synonym"
                },
                {
                    "name": "strawberry",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "N",
                    "type": "recommended"
                },
                {
                    "name": "1.1",
                    "type": "synonym"
                },
                {
                    "name": "16-178",
                    "type": "synonym"
                },
                {
                    "name": "16-55",
                    "type": "synonym"
                },
                {
                    "name": "Ax",
                    "type": "synonym"
                },
                {
                    "name": "CG3936",
                    "type": "synonym"
                },
                {
                    "name": "CT13012",
                    "type": "synonym"
                },
                {
                    "name": "Chp",
                    "type": "synonym"
                },
                {
                    "name": "Co",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3936",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3936",
                    "type": "synonym"
                },
                {
                    "name": "EG:140G11.1",
                    "type": "synonym"
                },
                {
                    "name": "EG:163A10.2",
                    "type": "synonym"
                },
                {
                    "name": "NECD",
                    "type": "synonym"
                },
                {
                    "name": "NICD",
                    "type": "synonym"
                },
                {
                    "name": "Nicd",
                    "type": "synonym"
                },
                {
                    "name": "N",
                    "type": "synonym"
                },
                {
                    "name": "RICN",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-1.12",
                    "type": "synonym"
                },
                {
                    "name": "clone 1.12",
                    "type": "synonym"
                },
                {
                    "name": "co",
                    "type": "synonym"
                },
                {
                    "name": "dNotch",
                    "type": "synonym"
                },
                {
                    "name": "fa",
                    "type": "synonym"
                },
                {
                    "name": "l(1)3Cb",
                    "type": "synonym"
                },
                {
                    "name": "l(1)Ax",
                    "type": "synonym"
                },
                {
                    "name": "l(1)N",
                    "type": "synonym"
                },
                {
                    "name": "n[fah]",
                    "type": "synonym"
                },
                {
                    "name": "nd",
                    "type": "synonym"
                },
                {
                    "name": "notch",
                    "type": "synonym"
                },
                {
                    "name": "shd",
                    "type": "synonym"
                },
                {
                    "name": "spl",
                    "type": "synonym"
                },
                {
                    "name": "swb",
                    "type": "synonym"
                }
            ],
            "record_id": "P07207-1",
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                    "id": "0080333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080333"
                }
            ]
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                }
            ],
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                {
                    "name": "Channel-associated protein of synapse-110",
                    "type": "synonym"
                },
                {
                    "name": "Chapsyn-110",
                    "type": "synonym"
                },
                {
                    "name": "Postsynaptic density protein PSD-93",
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                },
                {
                    "name": "channel-associated protein of synapse-110",
                    "type": "synonym"
                },
                {
                    "name": "channel-associated protein of synapses, 110kDa",
                    "type": "synonym"
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                {
                    "name": "discs, large homolog 2, chapsyn-110",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 2",
                    "type": "synonym"
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                {
                    "name": "postsynaptic density protein PSD-93",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 58",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "DLG2",
                    "type": "recommended"
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                {
                    "name": "DLG2",
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                },
                {
                    "name": "PPP1R58",
                    "type": "synonym"
                },
                {
                    "name": "PSD-93",
                    "type": "synonym"
                },
                {
                    "name": "PSD93",
                    "type": "synonym"
                },
                {
                    "name": "chapsyn-110",
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                }
            ],
            "record_id": "Q15700-1",
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                    "id": "0080333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05231-1",
            "uniprot_ac": "P05231",
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                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-6",
                    "type": "recommended"
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                {
                    "name": "B-cell differentiation factor",
                    "type": "synonym"
                },
                {
                    "name": "B-cell stimulatory factor 2",
                    "type": "synonym"
                },
                {
                    "name": "BSF-2",
                    "type": "synonym"
                },
                {
                    "name": "CDF",
                    "type": "synonym"
                },
                {
                    "name": "CTL differentiation factor",
                    "type": "synonym"
                },
                {
                    "name": "Hybridoma growth factor",
                    "type": "synonym"
                },
                {
                    "name": "IFN-beta-2",
                    "type": "synonym"
                },
                {
                    "name": "IL-6",
                    "type": "synonym"
                },
                {
                    "name": "Interferon beta-2",
                    "type": "synonym"
                },
                {
                    "name": "hybridoma growth factor",
                    "type": "synonym"
                },
                {
                    "name": "interferon beta-2",
                    "type": "synonym"
                },
                {
                    "name": "interleukin BSF-2",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-6 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IL6",
                    "type": "recommended"
                },
                {
                    "name": "BSF-2",
                    "type": "synonym"
                },
                {
                    "name": "BSF2",
                    "type": "synonym"
                },
                {
                    "name": "CDF",
                    "type": "synonym"
                },
                {
                    "name": "HGF",
                    "type": "synonym"
                },
                {
                    "name": "HSF",
                    "type": "synonym"
                },
                {
                    "name": "IFN-beta-2",
                    "type": "synonym"
                },
                {
                    "name": "IFNB2",
                    "type": "synonym"
                },
                {
                    "name": "IL-6",
                    "type": "synonym"
                },
                {
                    "name": "IL6",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080333"
                }
            ]
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                }
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                    "name": "Ectonucleotide pyrophosphatase/phosphodiesterase family member 1",
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                {
                    "name": "3.1.4.1",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.9",
                    "type": "synonym"
                },
                {
                    "name": "Alkaline phosphodiesterase I",
                    "type": "synonym"
                },
                {
                    "name": "E-NPP 1",
                    "type": "synonym"
                },
                {
                    "name": "Ly-41 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Membrane component chromosome 6 surface marker 1",
                    "type": "synonym"
                },
                {
                    "name": "NPPase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleotide diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleotide pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphodiesterase I/nucleotide pyrophosphatase 1",
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                },
                {
                    "name": "Plasma-cell membrane glycoprotein PC-1",
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                },
                {
                    "name": "alkaline phosphodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "alkaline phosphodiesterase I",
                    "type": "synonym"
                },
                {
                    "name": "ectonucleotide pyrophosphatase/phosphodiesterase family member 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane component, chromosome 6, surface marker 1",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase I/nucleotide pyrophosphatase 1",
                    "type": "synonym"
                },
                {
                    "name": "plasma-cell membrane glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "plasma-cell membrane glycoprotein PC-1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "ENPP1",
                    "type": "recommended"
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                {
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                },
                {
                    "name": "COLED",
                    "type": "synonym"
                },
                {
                    "name": "ENPP1",
                    "type": "synonym"
                },
                {
                    "name": "M6S1",
                    "type": "synonym"
                },
                {
                    "name": "NPP1",
                    "type": "synonym"
                },
                {
                    "name": "NPPS",
                    "type": "synonym"
                },
                {
                    "name": "PC-1",
                    "type": "synonym"
                },
                {
                    "name": "PC1",
                    "type": "synonym"
                },
                {
                    "name": "PCA1",
                    "type": "synonym"
                },
                {
                    "name": "PDNP1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080333"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080333"
}
