{
    "disease_id": "DOID:0110965",
    "recommended_name": {
        "id": "DOID:0110965",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110965",
        "name": "brachydactyly type A2",
        "description": "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12."
    },
    "synonyms": [
        {
            "id": "DOID:0110965",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110965",
            "name": "BDA2",
            "description": ""
        },
        {
            "id": "DOID:0110965",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110965",
            "name": "Mohr-Wriedt type brachydactyly",
            "description": ""
        },
        {
            "id": "DOID:0110965",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110965",
            "name": "brachymesophalangy II",
            "description": ""
        },
        {
            "id": "MONDO:0007216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007216",
            "name": "brachydactyly type A2",
            "description": "Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger."
        },
        {
            "id": "MONDO:0007216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007216",
            "name": "BDA2",
            "description": ""
        },
        {
            "id": "MONDO:0007216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007216",
            "name": "Mohr-Wriedt type brachydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0007216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007216",
            "name": "brachydactyly, Mohr-Wriedt type",
            "description": ""
        },
        {
            "id": "MONDO:0007216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007216",
            "name": "Brachymesophalangy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007216",
            "name": "brachydactyly, type A2",
            "description": ""
        },
        {
            "id": "MIM:112600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/112600",
            "name": "Brachydactyly A2",
            "description": "Brachydactyly A2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110965"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110965",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110965",
            "categories": []
        },
        {
            "id": "MONDO:0007216",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007216",
            "categories": []
        },
        {
            "id": "MIM:112600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/112600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PJN6-1",
            "uniprot_ac": "A0A8M9PJN6",
            "uniprot_id": "A0A8M9PJN6_DANRE",
            "refseq_ac": "NP_571532",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "alk6",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type-1B precursor",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type 1ba",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type 1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bmpr1ba",
                    "type": "recommended"
                },
                {
                    "name": "BMPR-IB",
                    "type": "synonym"
                },
                {
                    "name": "BR1b",
                    "type": "synonym"
                },
                {
                    "name": "alk6tr",
                    "type": "synonym"
                },
                {
                    "name": "bmpr1ba",
                    "type": "synonym"
                },
                {
                    "name": "bmpr1b",
                    "type": "synonym"
                },
                {
                    "name": "zALK-6",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92220",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PJN6-1",
            "evidence": [
                {
                    "id": "0110965",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110965"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ACD6B682-1",
            "uniprot_ac": "A0ACD6B682",
            "uniprot_id": "A0ACD6B682_DANRE",
            "refseq_ac": "XP_073810845",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 5 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gdf5",
                    "type": "recommended"
                },
                {
                    "name": "gdf5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B682-1",
            "evidence": [
                {
                    "id": "0110965",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110965"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43027-1",
            "uniprot_ac": "P43027",
            "uniprot_id": "GDF5_MOUSE",
            "refseq_ac": "NP_032135",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 5",
                    "type": "recommended"
                },
                {
                    "name": "BMP-14",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 14",
                    "type": "synonym"
                },
                {
                    "name": "GDF-5",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 14",
                    "type": "synonym"
                },
                {
                    "name": "cartilage-derived morphogenetic protein-1",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 5 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdf5",
                    "type": "recommended"
                },
                {
                    "name": "BMP-14",
                    "type": "synonym"
                },
                {
                    "name": "Bmp14",
                    "type": "synonym"
                },
                {
                    "name": "Bp",
                    "type": "synonym"
                },
                {
                    "name": "Cdmp-1",
                    "type": "synonym"
                },
                {
                    "name": "Gdf-5",
                    "type": "synonym"
                },
                {
                    "name": "Gdf5",
                    "type": "synonym"
                },
                {
                    "name": "bp",
                    "type": "synonym"
                },
                {
                    "name": "brp",
                    "type": "synonym"
                }
            ],
            "record_id": "P43027-1",
            "evidence": [
                {
                    "id": "0110965",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110965"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21274-1",
            "uniprot_ac": "P21274",
            "uniprot_id": "BMP2_MOUSE",
            "refseq_ac": "NP_031579",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "BMP-2A",
                    "type": "synonym"
                },
                {
                    "name": "BMP-2",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmp2",
                    "type": "recommended"
                },
                {
                    "name": "Bmp-2",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2a",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2",
                    "type": "synonym"
                }
            ],
            "record_id": "P21274-1",
            "evidence": [
                {
                    "id": "0110965",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110965"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36898-1",
            "uniprot_ac": "P36898",
            "uniprot_id": "BMR1B_MOUSE",
            "refseq_ac": "NP_001264145",
            "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 receptor type-1B",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "ALK-6",
                    "type": "synonym"
                },
                {
                    "name": "Activin receptor-like kinase 6",
                    "type": "synonym"
                },
                {
                    "name": "BMP type-1B receptor",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1B",
                    "type": "synonym"
                },
                {
                    "name": "SKR6",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase receptor R6",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor-like kinase 6",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type-1B isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase receptor R6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmpr1b",
                    "type": "recommended"
                },
                {
                    "name": "ALK-6",
                    "type": "synonym"
                },
                {
                    "name": "Acvrlk6",
                    "type": "synonym"
                },
                {
                    "name": "Alk6",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1B",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-IB",
                    "type": "synonym"
                },
                {
                    "name": "Bmpr1b",
                    "type": "synonym"
                },
                {
                    "name": "CFK-43a",
                    "type": "synonym"
                },
                {
                    "name": "SKR6",
                    "type": "synonym"
                }
            ],
            "record_id": "P36898-1",
            "evidence": [
                {
                    "id": "0110965",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110965"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03147-1",
            "uniprot_ac": "Q03147",
            "uniprot_id": "CDK7_MOUSE",
            "refseq_ac": "NP_034004",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 7",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "39 kDa protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "CDK-activating kinase",
                    "type": "synonym"
                },
                {
                    "name": "CR4 protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "CRK4 PK (CDC2-related-kinase-4 protein kinase)",
                    "type": "synonym"
                },
                {
                    "name": "CRK4",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "P39 Mo15",
                    "type": "synonym"
                },
                {
                    "name": "Protein-tyrosine kinase MPK-7",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex kinase subunit",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "protein-tyrosine kinase MPK-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdk7",
                    "type": "recommended"
                },
                {
                    "name": "C230069N13",
                    "type": "synonym"
                },
                {
                    "name": "CAK",
                    "type": "synonym"
                },
                {
                    "name": "Cak",
                    "type": "synonym"
                },
                {
                    "name": "Cdk7",
                    "type": "synonym"
                },
                {
                    "name": "Cdkn7",
                    "type": "synonym"
                },
                {
                    "name": "Crk4",
                    "type": "synonym"
                },
                {
                    "name": "Mo15",
                    "type": "synonym"
                },
                {
                    "name": "Mpk-7",
                    "type": "synonym"
                },
                {
                    "name": "P39 Mo15",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0110965",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110965"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43026-1",
            "uniprot_ac": "P43026",
            "uniprot_id": "GDF5_HUMAN",
            "refseq_ac": "NP_000548",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 5",
                    "type": "recommended"
                },
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                    "name": "BMP-14",
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                },
                {
                    "name": "Bone morphogenetic protein 14",
                    "type": "synonym"
                },
                {
                    "name": "CDMP-1",
                    "type": "synonym"
                },
                {
                    "name": "Cartilage-derived morphogenetic protein 1",
                    "type": "synonym"
                },
                {
                    "name": "GDF-5",
                    "type": "synonym"
                },
                {
                    "name": "LAP-4",
                    "type": "synonym"
                },
                {
                    "name": "LPS-associated protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Lipopolysaccharide-associated protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Radotermin",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 14",
                    "type": "synonym"
                },
                {
                    "name": "cartilage-derived morphogenetic protein-1",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 5 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide-associated protein 4",
                    "type": "synonym"
                },
                {
                    "name": "radotermin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GDF5",
                    "type": "recommended"
                },
                {
                    "name": "BDA1C",
                    "type": "synonym"
                },
                {
                    "name": "BMP-14",
                    "type": "synonym"
                },
                {
                    "name": "BMP14",
                    "type": "synonym"
                },
                {
                    "name": "CDMP1",
                    "type": "synonym"
                },
                {
                    "name": "DUPANS",
                    "type": "synonym"
                },
                {
                    "name": "GDF5",
                    "type": "synonym"
                },
                {
                    "name": "LAP-4",
                    "type": "synonym"
                },
                {
                    "name": "LAP4",
                    "type": "synonym"
                },
                {
                    "name": "OS5",
                    "type": "synonym"
                },
                {
                    "name": "SYM1B",
                    "type": "synonym"
                },
                {
                    "name": "SYNS2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "112600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/112600"
                },
                {
                    "id": "0110965",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110965"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00238-1",
            "uniprot_ac": "O00238",
            "uniprot_id": "BMR1B_HUMAN",
            "refseq_ac": "NP_001194",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein receptor type-1B",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "BMP type-1B receptor",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1B",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor-like kinase 6",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type-1B isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type IB",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine receptor kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BMPR1B",
                    "type": "recommended"
                },
                {
                    "name": "ALK-6",
                    "type": "synonym"
                },
                {
                    "name": "ALK6",
                    "type": "synonym"
                },
                {
                    "name": "AMD3",
                    "type": "synonym"
                },
                {
                    "name": "AMDD",
                    "type": "synonym"
                },
                {
                    "name": "BDA1D",
                    "type": "synonym"
                },
                {
                    "name": "BDA2",
                    "type": "synonym"
                },
                {
                    "name": "BMPR1B",
                    "type": "synonym"
                },
                {
                    "name": "CDw293",
                    "type": "synonym"
                }
            ],
            "record_id": "O00238-1",
            "evidence": [
                {
                    "id": "112600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/112600"
                },
                {
                    "id": "0110965",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110965"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12643-1",
            "uniprot_ac": "P12643",
            "uniprot_id": "BMP2_HUMAN",
            "refseq_ac": "NP_001191",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 2",
                    "type": "recommended"
                },
                {
                    "name": "BMP-2A",
                    "type": "synonym"
                },
                {
                    "name": "BMP-2",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 2A",
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                {
                    "name": "bone morphogenetic protein 2 preproprotein",
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                },
                {
                    "name": "bone morphogenetic protein 2A",
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                }
            ],
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                {
                    "name": "BMP2",
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                    "name": "BDA2",
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                },
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                {
                    "name": "BMP2",
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                    "name": "SSFSC1",
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                {
                    "name": "SSFSC",
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                }
            ],
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                {
                    "id": "112600",
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                },
                {
                    "id": "0110965",
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            ]
        },
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Serine/threonine-protein kinase KIN28",
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                {
                    "name": "2.7.11.23",
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                {
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                }
            ],
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                {
                    "name": "KIN28",
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                {
                    "name": "D2330",
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                {
                    "name": "KIN28",
                    "type": "synonym"
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            ],
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                    "id": "0110965",
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                }
            ]
        },
        {
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                }
            ],
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                {
                    "name": "Serine/threonine-protein kinase receptor",
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                {
                    "name": "2.7.11.30",
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                {
                    "name": "bone morphogenetic protein binding serine/threonine kinase receptor",
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                },
                {
                    "name": "bone morphogenetic protein receptor type-1B",
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                },
                {
                    "name": "bone morphogenetic protein receptor, type IB",
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                }
            ],
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                {
                    "name": "Bmpr1b",
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                {
                    "name": "Bmpr1b",
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                {
                    "name": "CFK-43a",
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                    "id": "0110965",
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                }
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                }
            ],
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                {
                    "name": "Bone morphogenetic protein 2",
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                    "name": "BMP-2",
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                {
                    "name": "Bone morphogenetic protein 2A",
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                },
                {
                    "name": "bone morphogenetic protein 2 precursor",
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                {
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                }
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                {
                    "name": "Bmp2",
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                {
                    "name": "Bmp-2",
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                {
                    "name": "Bmp2",
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                {
                    "id": "0110965",
                    "database": "AGR",
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                }
            ]
        },
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                    "name": "Rattus norvegicus",
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                }
            ],
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                {
                    "name": "Growth/differentiation factor 5",
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                {
                    "name": "Bone morphogenetic protein 14",
                    "type": "synonym"
                },
                {
                    "name": "cartilage-derived morphogenetic protein 1",
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                },
                {
                    "name": "growth/differentiation factor 5 preproprotein",
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                }
            ],
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                {
                    "name": "Gdf5",
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                },
                {
                    "name": "Cdmp1",
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                },
                {
                    "name": "Gdf5",
                    "type": "synonym"
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            ],
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                    "id": "0110965",
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            ]
        },
        {
            "uniprot_canonical_ac": "P51952-1",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                }
            ],
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                {
                    "name": "Cyclin-dependent kinase 7",
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                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "39 protein kinase",
                    "type": "synonym"
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                {
                    "name": "CDK-activating kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 7",
                    "type": "synonym"
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                {
                    "name": "P39 Mo15",
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                {
                    "name": "TFIIH basal transcription factor complex kinase subunit",
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                    "name": "Cdk7",
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                    "name": "Cak1",
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                    "name": "Cak",
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                    "name": "Mo15",
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            ],
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                    "id": "0110965",
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            ]
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                    "name": "2.7.11.30",
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                    "name": "BMP receptor kinase 25D",
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                {
                    "name": "CG14026-PC",
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                {
                    "name": "DPP receptor",
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                    "name": "Thick-veins",
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                {
                    "name": "Thick-vein",
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                {
                    "name": "slater",
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                    "name": "thick veins",
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                {
                    "name": "thickveins, isoform C",
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                {
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                    "id": "0110965",
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                    "name": "TGFbeta",
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                {
                    "name": "l(2)22Fa",
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                {
                    "name": "l(2)k17036",
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                    "id": "0110965",
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                {
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                },
                {
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                {
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                {
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            ],
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                    "name": "alpha 1 (VI) chain (61 AA)",
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                },
                {
                    "name": "collagen VI, alpha-1 polypeptide",
                    "type": "synonym"
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                {
                    "name": "collagen alpha-1(VI) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(VI) chain",
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                {
                    "name": "collagen, type VI, alpha 1",
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                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
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                {
                    "name": "COL6A1",
                    "type": "recommended"
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                {
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                {
                    "name": "BTHLM1",
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                },
                {
                    "name": "COL6A1",
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                },
                {
                    "name": "OPLL",
                    "type": "synonym"
                },
                {
                    "name": "UCHMD1A",
                    "type": "synonym"
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                {
                    "name": "UCHMD1",
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                }
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                    "id": "0110965",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110965"
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            ]
        },
        {
            "uniprot_canonical_ac": "P50613-1",
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            "species": [
                {
                    "name": "Homo sapiens",
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                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 7",
                    "type": "recommended"
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                {
                    "name": "2.7.11.22",
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                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "39 KDa protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "39 kDa protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "CDK-activating kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex kinase subunit",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 7 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "homolog of Xenopus MO15 Cdk-activating kinase",
                    "type": "synonym"
                },
                {
                    "name": "kinase subunit of CAK",
                    "type": "synonym"
                },
                {
                    "name": "p39 Mo15",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine kinase stk1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase MO15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDK7",
                    "type": "recommended"
                },
                {
                    "name": "CAK1",
                    "type": "synonym"
                },
                {
                    "name": "CAK",
                    "type": "synonym"
                },
                {
                    "name": "CDK7",
                    "type": "synonym"
                },
                {
                    "name": "CDKN7",
                    "type": "synonym"
                },
                {
                    "name": "HCAK",
                    "type": "synonym"
                },
                {
                    "name": "MO15",
                    "type": "synonym"
                },
                {
                    "name": "STK1",
                    "type": "synonym"
                },
                {
                    "name": "p39MO15",
                    "type": "synonym"
                }
            ],
            "record_id": "P50613-1",
            "evidence": [
                {
                    "id": "0110965",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110965"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110965"
}