{
    "disease_id": "DOID:0111535",
    "recommended_name": {
        "id": "DOID:0111535",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111535",
        "name": "progressive osseous heteroplasia",
        "description": "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32."
    },
    "synonyms": [
        {
            "id": "DOID:0111535",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111535",
            "name": "POH",
            "description": ""
        },
        {
            "id": "DOID:0111535",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111535",
            "name": "ectopic ossification familial type",
            "description": ""
        },
        {
            "id": "DOID:0111535",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111535",
            "name": "familial ectopic ossification",
            "description": ""
        },
        {
            "id": "DOID:0111535",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111535",
            "name": "osteoma cutis",
            "description": ""
        },
        {
            "id": "MONDO:0008153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008153",
            "name": "progressive osseous heteroplasia",
            "description": "A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation."
        },
        {
            "id": "MONDO:0008153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008153",
            "name": "POH",
            "description": ""
        },
        {
            "id": "MONDO:0008153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008153",
            "name": "familial ectopic ossification",
            "description": ""
        },
        {
            "id": "MONDO:0008153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008153",
            "name": "poh",
            "description": ""
        },
        {
            "id": "MONDO:0008153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008153",
            "name": "ectopic ossification familial type",
            "description": ""
        },
        {
            "id": "MONDO:0008153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008153",
            "name": "osseous heteroplasia, progressive",
            "description": ""
        },
        {
            "id": "MIM:166350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/166350",
            "name": "Progressive osseous heteroplasia",
            "description": "Progressive osseous heteroplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111535"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111535",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111535",
            "categories": []
        },
        {
            "id": "MONDO:0008153",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008153",
            "categories": []
        },
        {
            "id": "MIM:166350",
            "database": "MIM",
            "url": "https://www.omim.org/entry/166350",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PZ01-1",
            "uniprot_ac": "A0A8M1PZ01",
            "uniprot_id": "A0A8M1PZ01_DANRE",
            "refseq_ac": "NP_001429019",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(s) subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Adenylate cyclase-stimulating G alpha protein",
                    "type": "synonym"
                },
                {
                    "name": "GNAS complex locus isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Galpha s",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gnas",
                    "type": "recommended"
                },
                {
                    "name": "gnas",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PZ01-1",
            "evidence": [
                {
                    "id": "0111535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QGH7-1",
            "uniprot_ac": "F1QGH7",
            "uniprot_id": "CTNB1_DANRE",
            "refseq_ac": "NP_571134",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin beta-1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "beta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "catenin beta-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ctnnb1",
                    "type": "recommended"
                },
                {
                    "name": "ctnnb1",
                    "type": "synonym"
                },
                {
                    "name": "ctnnb",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd2058",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb73e10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi81c06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk25h01",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QGH7-1",
            "evidence": [
                {
                    "id": "0111535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4G6A6-1",
            "uniprot_ac": "Q4G6A6",
            "uniprot_id": "Q4G6A6_DANRE",
            "refseq_ac": "NP_001077326",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone Gla protein",
                    "type": "recommended"
                },
                {
                    "name": "DrOC1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-carboxyglutamic acid-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "bgp",
                    "type": "synonym"
                },
                {
                    "name": "bone Gla protein",
                    "type": "synonym"
                },
                {
                    "name": "gamma-carboxyglutamic acid-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin precursor",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bglap",
                    "type": "recommended"
                },
                {
                    "name": "bglap",
                    "type": "synonym"
                },
                {
                    "name": "si:ch1073-504d15.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4G6A6-1",
            "evidence": [
                {
                    "id": "0111535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6R0H7-1",
            "uniprot_ac": "Q6R0H7",
            "uniprot_id": "GNAS1_MOUSE",
            "refseq_ac": "NP_034439",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate cyclase-stimulating G alpha protein",
                    "type": "synonym"
                },
                {
                    "name": "Extra large alphas protein",
                    "type": "synonym"
                },
                {
                    "name": "GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus",
                    "type": "synonym"
                },
                {
                    "name": "Gs alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "XLalphas",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase-stimulating G alpha protein",
                    "type": "synonym"
                },
                {
                    "name": "alternative gene product encoded by XL-exon",
                    "type": "synonym"
                },
                {
                    "name": "extra large alphas protein",
                    "type": "synonym"
                },
                {
                    "name": "neuroendocrine secretory protein 55",
                    "type": "synonym"
                },
                {
                    "name": "protein ALEX",
                    "type": "synonym"
                },
                {
                    "name": "protein GNAS isoform XLas",
                    "type": "synonym"
                },
                {
                    "name": "secretogranin VI",
                    "type": "synonym"
                },
                {
                    "name": "stimulatory G-protein alpha subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnas",
                    "type": "recommended"
                },
                {
                    "name": "5530400H20Rik",
                    "type": "synonym"
                },
                {
                    "name": "A930027G11Rik",
                    "type": "synonym"
                },
                {
                    "name": "C130027O20Rik",
                    "type": "synonym"
                },
                {
                    "name": "GPSA",
                    "type": "synonym"
                },
                {
                    "name": "GSP",
                    "type": "synonym"
                },
                {
                    "name": "Galphas",
                    "type": "synonym"
                },
                {
                    "name": "Gnas1",
                    "type": "synonym"
                },
                {
                    "name": "Gnasxl",
                    "type": "synonym"
                },
                {
                    "name": "Gnas",
                    "type": "synonym"
                },
                {
                    "name": "Gs-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Gsa",
                    "type": "synonym"
                },
                {
                    "name": "MNCb-5546",
                    "type": "synonym"
                },
                {
                    "name": "Nesp55",
                    "type": "synonym"
                },
                {
                    "name": "Nespl",
                    "type": "synonym"
                },
                {
                    "name": "Nesp",
                    "type": "synonym"
                },
                {
                    "name": "Oed-Sml",
                    "type": "synonym"
                },
                {
                    "name": "Oedsml",
                    "type": "synonym"
                },
                {
                    "name": "P1",
                    "type": "synonym"
                },
                {
                    "name": "P2",
                    "type": "synonym"
                },
                {
                    "name": "P3",
                    "type": "synonym"
                },
                {
                    "name": "PHP1A",
                    "type": "synonym"
                },
                {
                    "name": "PHP1B",
                    "type": "synonym"
                },
                {
                    "name": "POH",
                    "type": "synonym"
                },
                {
                    "name": "SCG6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6R0H7-1",
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                {
                    "id": "0111535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02248-1",
            "uniprot_ac": "Q02248",
            "uniprot_id": "CTNB1_MOUSE",
            "refseq_ac": "NP_001159374",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin beta-1",
                    "type": "recommended"
                },
                {
                    "name": "Beta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "beta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "catenin (cadherin associated protein), beta 1",
                    "type": "synonym"
                },
                {
                    "name": "catenin beta-1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctnnb1",
                    "type": "recommended"
                },
                {
                    "name": "Bfc",
                    "type": "synonym"
                },
                {
                    "name": "Catnb",
                    "type": "synonym"
                },
                {
                    "name": "Ctnnb1",
                    "type": "synonym"
                },
                {
                    "name": "Mesc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02248-1",
            "evidence": [
                {
                    "id": "0111535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54615-1",
            "uniprot_ac": "P54615",
            "uniprot_id": "OSTR_MOUSE",
            "refseq_ac": "NP_001292377",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Osteocalcin-related protein",
                    "type": "recommended"
                },
                {
                    "name": "Gamma-carboxyglutamic acid-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Nephrocalcin",
                    "type": "synonym"
                },
                {
                    "name": "OC-X",
                    "type": "synonym"
                },
                {
                    "name": "bone gamma-carboxyglutamate protein, related sequence 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-carboxyglutamic acid-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "nephrocalcin",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin-related protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bglap3",
                    "type": "recommended"
                },
                {
                    "name": "Bglap-rs1",
                    "type": "synonym"
                },
                {
                    "name": "Bglap3",
                    "type": "synonym"
                },
                {
                    "name": "OC-X",
                    "type": "synonym"
                },
                {
                    "name": "ORG",
                    "type": "synonym"
                },
                {
                    "name": "mOC-X",
                    "type": "synonym"
                }
            ],
            "record_id": "P54615-1",
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                {
                    "id": "0111535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P86546-1",
            "uniprot_ac": "P86546",
            "uniprot_id": "OSTCN_MOUSE",
            "refseq_ac": "NP_031567",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Osteocalcin",
                    "type": "recommended"
                },
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                    "name": "BGP",
                    "type": "synonym"
                },
                {
                    "name": "Bone Gla protein",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-carboxyglutamic acid-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "OG1",
                    "type": "synonym"
                },
                {
                    "name": "bone Gla protein",
                    "type": "synonym"
                },
                {
                    "name": "bone gamma carboxyglutamate protein 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-carboxyglutamic acid-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bglap",
                    "type": "recommended"
                },
                {
                    "name": "BGP",
                    "type": "synonym"
                },
                {
                    "name": "Bglap1",
                    "type": "synonym"
                },
                {
                    "name": "Bglap",
                    "type": "synonym"
                },
                {
                    "name": "OC",
                    "type": "synonym"
                },
                {
                    "name": "OG1",
                    "type": "synonym"
                },
                {
                    "name": "Ocn",
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                {
                    "name": "mOC-A",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P86547-1",
            "uniprot_ac": "P86547",
            "uniprot_id": "OSTC2_MOUSE",
            "refseq_ac": "NP_001027469",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Osteocalcin-2",
                    "type": "recommended"
                },
                {
                    "name": "BGP2",
                    "type": "synonym"
                },
                {
                    "name": "Bone Gla protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-carboxyglutamic acid-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "OG2",
                    "type": "synonym"
                },
                {
                    "name": "bone Gla protein 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-carboxyglutamic acid-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin-2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "Bglap2",
                    "type": "recommended"
                },
                {
                    "name": "BGP2",
                    "type": "synonym"
                },
                {
                    "name": "Bglap1",
                    "type": "synonym"
                },
                {
                    "name": "Bglap2",
                    "type": "synonym"
                },
                {
                    "name": "Bgp",
                    "type": "synonym"
                },
                {
                    "name": "Og2",
                    "type": "synonym"
                },
                {
                    "name": "mOC-B",
                    "type": "synonym"
                }
            ],
            "record_id": "P86547-1",
            "evidence": [
                {
                    "id": "0111535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21275-1",
            "uniprot_ac": "P21275",
            "uniprot_id": "BMP4_MOUSE",
            "refseq_ac": "NP_001303289",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 4",
                    "type": "recommended"
                },
                {
                    "name": "BMP-2B",
                    "type": "synonym"
                },
                {
                    "name": "BMP-4",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 4 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmp4",
                    "type": "recommended"
                },
                {
                    "name": "Bmp-4",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2b-1",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2b1",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2b",
                    "type": "synonym"
                },
                {
                    "name": "Bmp4",
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            ]
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            ],
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            "gene_names": [
                {
                    "name": "Galphas",
                    "type": "recommended"
                },
                {
                    "name": "CG2835",
                    "type": "synonym"
                },
                {
                    "name": "DGsalpha",
                    "type": "synonym"
                },
                {
                    "name": "DGs",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2835",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2835",
                    "type": "synonym"
                },
                {
                    "name": "G-5alpha",
                    "type": "synonym"
                },
                {
                    "name": "G-alpha-60A",
                    "type": "synonym"
                },
                {
                    "name": "G-sa60A",
                    "type": "synonym"
                },
                {
                    "name": "G-salpha 60A",
                    "type": "synonym"
                },
                {
                    "name": "G-salpha60A",
                    "type": "synonym"
                },
                {
                    "name": "GNAS/L",
                    "type": "synonym"
                },
                {
                    "name": "GSalpha",
                    "type": "synonym"
                },
                {
                    "name": "G[[S]]alpha",
                    "type": "synonym"
                },
                {
                    "name": "G[[alphas]]",
                    "type": "synonym"
                },
                {
                    "name": "G[[s]]-alpha-60A",
                    "type": "synonym"
                },
                {
                    "name": "G[[s]]alpha",
                    "type": "synonym"
                },
                {
                    "name": "G[[s]]",
                    "type": "synonym"
                },
                {
                    "name": "Gaalpha",
                    "type": "synonym"
                },
                {
                    "name": "Galpha60A",
                    "type": "synonym"
                },
                {
                    "name": "GalphaS",
                    "type": "synonym"
                },
                {
                    "name": "Galpha[[s]]60A",
                    "type": "synonym"
                },
                {
                    "name": "Galpha[[s]]",
                    "type": "synonym"
                },
                {
                    "name": "Galphas60A",
                    "type": "synonym"
                },
                {
                    "name": "Galphas",
                    "type": "synonym"
                },
                {
                    "name": "Gs-alpha60A",
                    "type": "synonym"
                },
                {
                    "name": "Gs-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Gsalpha60A",
                    "type": "synonym"
                },
                {
                    "name": "Gsalpha60",
                    "type": "synonym"
                },
                {
                    "name": "Gsalpha",
                    "type": "synonym"
                },
                {
                    "name": "Gs",
                    "type": "synonym"
                },
                {
                    "name": "L",
                    "type": "synonym"
                },
                {
                    "name": "dG[[alphas]]",
                    "type": "synonym"
                },
                {
                    "name": "dgsalpha",
                    "type": "synonym"
                },
                {
                    "name": "dgs",
                    "type": "synonym"
                },
                {
                    "name": "galphas",
                    "type": "synonym"
                }
            ],
            "record_id": "P20354-1",
            "evidence": [
                {
                    "id": "0111535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18824-1",
            "uniprot_ac": "P18824",
            "uniprot_id": "ARM_DROME",
            "refseq_ac": "NP_001259149",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Armadillo segment polarity protein",
                    "type": "recommended"
                },
                {
                    "name": "-catenin",
                    "type": "synonym"
                },
                {
                    "name": "Armadillo(Arm)/beta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "Armadillo/beta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "Armadillo/bgr",
                    "type": "synonym"
                },
                {
                    "name": "Beta-catenin/Arm",
                    "type": "synonym"
                },
                {
                    "name": "CG11579-PF",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Catenin",
                    "type": "synonym"
                },
                {
                    "name": "amardillo",
                    "type": "synonym"
                },
                {
                    "name": "arm-PF",
                    "type": "synonym"
                },
                {
                    "name": "armadillo, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "armadillo",
                    "type": "synonym"
                },
                {
                    "name": "b-catenin",
                    "type": "synonym"
                },
                {
                    "name": "beta-Catenin",
                    "type": "synonym"
                },
                {
                    "name": "beta-catenin/Armadillo",
                    "type": "synonym"
                },
                {
                    "name": "betaCatenin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "arm",
                    "type": "recommended"
                },
                {
                    "name": "-Cat",
                    "type": "synonym"
                },
                {
                    "name": "ARM",
                    "type": "synonym"
                },
                {
                    "name": "Armadillo",
                    "type": "synonym"
                },
                {
                    "name": "Arm",
                    "type": "synonym"
                },
                {
                    "name": "CG11579",
                    "type": "synonym"
                },
                {
                    "name": "Dm Arm",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11579",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11579",
                    "type": "synonym"
                },
                {
                    "name": "EG:86E4.6",
                    "type": "synonym"
                },
                {
                    "name": "arm",
                    "type": "synonym"
                },
                {
                    "name": "beta-Catenin",
                    "type": "synonym"
                },
                {
                    "name": "beta-Cat",
                    "type": "synonym"
                },
                {
                    "name": "beta-cat-arm",
                    "type": "synonym"
                },
                {
                    "name": "beta-catenin",
                    "type": "synonym"
                },
                {
                    "name": "beta-cat",
                    "type": "synonym"
                },
                {
                    "name": "betaCatenin",
                    "type": "synonym"
                },
                {
                    "name": "betacat",
                    "type": "synonym"
                },
                {
                    "name": "bgr:-Cat",
                    "type": "synonym"
                },
                {
                    "name": "bgr",
                    "type": "synonym"
                },
                {
                    "name": "dmCTNNB1",
                    "type": "synonym"
                },
                {
                    "name": "l(1)2Bv",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0192",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0234",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0410",
                    "type": "synonym"
                },
                {
                    "name": "l(1)arm",
                    "type": "synonym"
                },
                {
                    "name": "t12687 ALR Dm",
                    "type": "synonym"
                }
            ],
            "record_id": "P18824-1",
            "evidence": [
                {
                    "id": "0111535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07713-1",
            "uniprot_ac": "P07713",
            "uniprot_id": "DECA_DROME",
            "refseq_ac": "NP_477311",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein decapentaplegic",
                    "type": "recommended"
                },
                {
                    "name": "CG9885-PA",
                    "type": "synonym"
                },
                {
                    "name": "Decapentaplegic/Bone morphogenetic protein",
                    "type": "synonym"
                },
                {
                    "name": "Haplo-insufficient",
                    "type": "synonym"
                },
                {
                    "name": "Protein DPP-C",
                    "type": "synonym"
                },
                {
                    "name": "blink",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenic protein",
                    "type": "synonym"
                },
                {
                    "name": "decapentaplegic, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "decapentaplegic",
                    "type": "synonym"
                },
                {
                    "name": "dpp-PA",
                    "type": "synonym"
                },
                {
                    "name": "heldout",
                    "type": "synonym"
                },
                {
                    "name": "shortvein",
                    "type": "synonym"
                },
                {
                    "name": "tegula",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dpp",
                    "type": "recommended"
                },
                {
                    "name": "BMP",
                    "type": "synonym"
                },
                {
                    "name": "Bmp",
                    "type": "synonym"
                },
                {
                    "name": "CG9885",
                    "type": "synonym"
                },
                {
                    "name": "DPP-C",
                    "type": "synonym"
                },
                {
                    "name": "DPP",
                    "type": "synonym"
                },
                {
                    "name": "Dm-DPP",
                    "type": "synonym"
                },
                {
                    "name": "DmDPP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9885",
                    "type": "synonym"
                },
                {
                    "name": "Dpp/TGFbeta",
                    "type": "synonym"
                },
                {
                    "name": "Dpp",
                    "type": "synonym"
                },
                {
                    "name": "Hin-d",
                    "type": "synonym"
                },
                {
                    "name": "M(2)23AB",
                    "type": "synonym"
                },
                {
                    "name": "M(2)LS1",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta",
                    "type": "synonym"
                },
                {
                    "name": "TGF-b",
                    "type": "synonym"
                },
                {
                    "name": "TGFbeta",
                    "type": "synonym"
                },
                {
                    "name": "Tgfbeta",
                    "type": "synonym"
                },
                {
                    "name": "Tg",
                    "type": "synonym"
                },
                {
                    "name": "blk",
                    "type": "synonym"
                },
                {
                    "name": "dpp",
                    "type": "synonym"
                },
                {
                    "name": "ho",
                    "type": "synonym"
                },
                {
                    "name": "l(2)10638",
                    "type": "synonym"
                },
                {
                    "name": "l(2)22Fa",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k17036",
                    "type": "synonym"
                },
                {
                    "name": "shv",
                    "type": "synonym"
                }
            ],
            "record_id": "P07713-1",
            "evidence": [
                {
                    "id": "0111535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95865-1",
            "uniprot_ac": "O95865",
            "uniprot_id": "DDAH2_HUMAN",
            "refseq_ac": "NP_001289936",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative hydrolase DDAH2",
                    "type": "recommended"
                },
                {
                    "name": "3.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "DDAH-2",
                    "type": "synonym"
                },
                {
                    "name": "DDAHII",
                    "type": "synonym"
                },
                {
                    "name": "Inactive N(G),N(G)-dimethylarginine dimethylaminohydrolase 2",
                    "type": "synonym"
                },
                {
                    "name": "Inactive dimethylarginine dimethylaminohydrolase 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein G6a",
                    "type": "synonym"
                },
                {
                    "name": "S-phase protein",
                    "type": "synonym"
                },
                {
                    "name": "dimethylargininase-2",
                    "type": "synonym"
                },
                {
                    "name": "dimethylarginine dimethylaminohydrolase II",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 277",
                    "type": "synonym"
                },
                {
                    "name": "inactive N(G),N(G)-dimethylarginine dimethylaminohydrolase 2",
                    "type": "synonym"
                },
                {
                    "name": "inactive dimethylarginine dimethylaminohydrolase 2",
                    "type": "synonym"
                },
                {
                    "name": "n(G),N(G)-dimethylarginine dimethylaminohydrolase 2",
                    "type": "synonym"
                },
                {
                    "name": "putative hydrolase DDAH2",
                    "type": "synonym"
                },
                {
                    "name": "testis tissue sperm-binding protein Li 54e",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDAH2",
                    "type": "recommended"
                },
                {
                    "name": "DDAH2",
                    "type": "synonym"
                },
                {
                    "name": "DDAHII",
                    "type": "synonym"
                },
                {
                    "name": "DDAH",
                    "type": "synonym"
                },
                {
                    "name": "G6A",
                    "type": "synonym"
                },
                {
                    "name": "G6a",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-277",
                    "type": "synonym"
                },
                {
                    "name": "NG30",
                    "type": "synonym"
                }
            ],
            "record_id": "O95865-1",
            "evidence": [
                {
                    "id": "0111535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12111-1",
            "uniprot_ac": "P12111",
            "uniprot_id": "CO6A3_HUMAN",
            "refseq_ac": "NP_004360",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-3(VI) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen VI, alpha-3 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(VI) chain isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(VI) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type VI, alpha 3",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL6A3",
                    "type": "recommended"
                },
                {
                    "name": "BTHLM1C",
                    "type": "synonym"
                },
                {
                    "name": "BTHLM1",
                    "type": "synonym"
                },
                {
                    "name": "COL6A3",
                    "type": "synonym"
                },
                {
                    "name": "DYT27",
                    "type": "synonym"
                },
                {
                    "name": "UCMD1C",
                    "type": "synonym"
                },
                {
                    "name": "UCMD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P12111-1",
            "evidence": [
                {
                    "id": "0111535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53420-1",
            "uniprot_ac": "P53420",
            "uniprot_id": "CO4A4_HUMAN",
            "refseq_ac": "NP_000083",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-4(IV) chain",
                    "type": "recommended"
                },
                {
                    "name": "Collagen IV, alpha-4 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-4(IV) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-4(IV) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen of basement membrane, alpha-4 chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IV, alpha 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL4A4",
                    "type": "recommended"
                },
                {
                    "name": "ATS2",
                    "type": "synonym"
                },
                {
                    "name": "BFH1",
                    "type": "synonym"
                },
                {
                    "name": "BFH",
                    "type": "synonym"
                },
                {
                    "name": "CA44",
                    "type": "synonym"
                },
                {
                    "name": "COL4A4",
                    "type": "synonym"
                }
            ],
            "record_id": "P53420-1",
            "evidence": [
                {
                    "id": "0111535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09486-1",
            "uniprot_ac": "P09486",
            "uniprot_id": "SPRC_HUMAN",
            "refseq_ac": "NP_001296372",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SPARC",
                    "type": "recommended"
                },
                {
                    "name": "BM-40",
                    "type": "synonym"
                },
                {
                    "name": "Basement-membrane protein 40",
                    "type": "synonym"
                },
                {
                    "name": "ON",
                    "type": "synonym"
                },
                {
                    "name": "Osteonectin",
                    "type": "synonym"
                },
                {
                    "name": "SPARC isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Secreted protein acidic and rich in cysteine",
                    "type": "synonym"
                },
                {
                    "name": "basement-membrane protein 40",
                    "type": "synonym"
                },
                {
                    "name": "secreted protein, acidic, cysteine-rich (osteonectin)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPARC",
                    "type": "recommended"
                },
                {
                    "name": "BM-40",
                    "type": "synonym"
                },
                {
                    "name": "OI17",
                    "type": "synonym"
                },
                {
                    "name": "ONT",
                    "type": "synonym"
                },
                {
                    "name": "ON",
                    "type": "synonym"
                },
                {
                    "name": "SPARC",
                    "type": "synonym"
                }
            ],
            "record_id": "P09486-1",
            "evidence": [
                {
                    "id": "0111535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10451-1",
            "uniprot_ac": "P10451",
            "uniprot_id": "OSTP_HUMAN",
            "refseq_ac": "NP_000573",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Osteopontin",
                    "type": "recommended"
                },
                {
                    "name": "Bone sialoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "Nephropontin",
                    "type": "synonym"
                },
                {
                    "name": "SPP-1",
                    "type": "synonym"
                },
                {
                    "name": "SPP1/CALPHA1 fusion",
                    "type": "synonym"
                },
                {
                    "name": "Secreted phosphoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "Urinary stone protein",
                    "type": "synonym"
                },
                {
                    "name": "Uropontin",
                    "type": "synonym"
                },
                {
                    "name": "lnc-PKD2-2-3",
                    "type": "synonym"
                },
                {
                    "name": "nephropontin",
                    "type": "synonym"
                },
                {
                    "name": "osteopontin isoform OPN-b precursor",
                    "type": "synonym"
                },
                {
                    "name": "osteopontin/immunoglobulin alpha 1 heavy chain constant region fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)",
                    "type": "synonym"
                },
                {
                    "name": "urinary stone protein",
                    "type": "synonym"
                },
                {
                    "name": "uropontin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPP1",
                    "type": "recommended"
                },
                {
                    "name": "BNSP",
                    "type": "synonym"
                },
                {
                    "name": "BSPI",
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                },
                {
                    "name": "ETA-1",
                    "type": "synonym"
                },
                {
                    "name": "OPN",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0156",
                    "type": "synonym"
                },
                {
                    "name": "SPP1",
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                }
            ],
            "record_id": "P10451-1",
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                {
                    "id": "0111535",
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            ]
        },
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            "uniprot_canonical_ac": "P12644-1",
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                {
                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Bone morphogenetic protein 4",
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                },
                {
                    "name": "BMP-2B",
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                },
                {
                    "name": "BMP-4",
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                },
                {
                    "name": "Bone morphogenetic protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 4 isoform a preproprotein",
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                }
            ],
            "gene_names": [
                {
                    "name": "BMP4",
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                {
                    "name": "BMP2B1",
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                },
                {
                    "name": "BMP2B",
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                {
                    "name": "BMP4",
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                },
                {
                    "name": "DVR4",
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                {
                    "name": "MCOPS6",
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                {
                    "name": "OFC11",
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                    "name": "ZYME",
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                    "id": "0111535",
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                }
            ],
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                    "name": "Osteocalcin",
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                    "name": "BGP",
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                {
                    "name": "Bone Gla protein",
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                {
                    "name": "Gamma-carboxyglutamic acid-containing protein",
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                },
                {
                    "name": "bone gamma-carboxyglutamate (gla) protein (osteocalcin)",
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                {
                    "name": "gamma-carboxyglutamic acid-containing protein",
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                {
                    "name": "osteocalcin preproprotein",
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                    "name": "BGLAP",
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                    "name": "BGLAP",
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                {
                    "name": "BGP",
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                {
                    "name": "OCN",
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                {
                    "name": "OC",
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                }
            ],
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                {
                    "name": "Catenin beta-1",
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                {
                    "name": "Beta-catenin",
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                },
                {
                    "name": "catenin (cadherin-associated protein), beta 1, 88kDa",
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                {
                    "name": "catenin beta-1 isoform 1",
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                }
            ],
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                {
                    "name": "CTNNB1",
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                {
                    "name": "CTNNB",
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                {
                    "name": "EVR7",
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                },
                {
                    "name": "MRD19",
                    "type": "synonym"
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                {
                    "name": "NEDSDV",
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                {
                    "name": "PRO2286",
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                {
                    "name": "SW-cl.35",
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                {
                    "name": "armadillo",
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                    "id": "0111535",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111535"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111535"
}