{
    "disease_id": "DOID:0111785",
    "recommended_name": {
        "id": "DOID:0111785",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111785",
        "name": "frontometaphyseal dysplasia",
        "description": "An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss."
    },
    "synonyms": [
        {
            "id": "DOID:0111785",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111785",
            "name": "FMD",
            "description": ""
        },
        {
            "id": "MONDO:0024550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "name": "frontometaphyseal dysplasia 1",
            "description": "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene."
        },
        {
            "id": "MONDO:0024550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "name": "FLNA frontometaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0024550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "name": "frontometaphyseal dysplasia 1, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0024550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "name": "frontometaphyseal dysplasia caused by mutation in FLNA",
            "description": ""
        },
        {
            "id": "MONDO:0024550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "name": "FMD1",
            "description": ""
        },
        {
            "id": "MIM:305620",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/305620",
            "name": "Frontometaphyseal dysplasia 1",
            "description": "Frontometaphyseal dysplasia 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0111786",
            "label": "frontometaphyseal dysplasia 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111787",
            "label": "frontometaphyseal dysplasia 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111787",
        "DOID:0111786",
        "DOID:0111785"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111785",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111785",
            "categories": []
        },
        {
            "id": "MONDO:0024550",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024550",
            "categories": []
        },
        {
            "id": "MIM:305620",
            "database": "MIM",
            "url": "https://www.omim.org/entry/305620",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AT57-1",
            "uniprot_ac": "A0A8M3AT57",
            "uniprot_id": "A0A8M3AT57_DANRE",
            "refseq_ac": "XP_009292938",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Mitogen-activated protein kinase kinase kinase 7",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.25",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase 7 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "map3k7",
                    "type": "recommended"
                },
                {
                    "name": "TAK1b",
                    "type": "synonym"
                },
                {
                    "name": "map3k7",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-225h9.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110612",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AT57-1",
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                {
                    "id": "0111785",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111785"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62073-1",
            "uniprot_ac": "Q62073",
            "uniprot_id": "M3K7_MOUSE",
            "refseq_ac": "NP_766276",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase kinase kinase 7",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.25",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta-activated kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Transforming growth factor-beta-activated kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase 7 isoform A",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor-beta-activated kinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Map3k7",
                    "type": "recommended"
                },
                {
                    "name": "B430101B05",
                    "type": "synonym"
                },
                {
                    "name": "Map3k7",
                    "type": "synonym"
                },
                {
                    "name": "Tak1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62073-1",
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                {
                    "id": "0111785",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111785"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21333-1",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-A",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-filamin",
                    "type": "synonym"
                },
                {
                    "name": "Endothelial actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "FLN-A",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-1",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle filamin",
                    "type": "synonym"
                },
                {
                    "name": "actin binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "alpha-filamin",
                    "type": "synonym"
                },
                {
                    "name": "endothelial actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "filamin A, alpha",
                    "type": "synonym"
                },
                {
                    "name": "filamin-1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle filamin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FLNA",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "ABPX",
                    "type": "synonym"
                },
                {
                    "name": "CSBS",
                    "type": "synonym"
                },
                {
                    "name": "CVD1",
                    "type": "synonym"
                },
                {
                    "name": "FGS2",
                    "type": "synonym"
                },
                {
                    "name": "FLN-A",
                    "type": "synonym"
                },
                {
                    "name": "FLN1",
                    "type": "synonym"
                },
                {
                    "name": "FLNA",
                    "type": "synonym"
                },
                {
                    "name": "FLN",
                    "type": "synonym"
                },
                {
                    "name": "FMD",
                    "type": "synonym"
                },
                {
                    "name": "MNS",
                    "type": "synonym"
                },
                {
                    "name": "NHBP",
                    "type": "synonym"
                },
                {
                    "name": "OPD1",
                    "type": "synonym"
                },
                {
                    "name": "OPD2",
                    "type": "synonym"
                },
                {
                    "name": "OPD",
                    "type": "synonym"
                },
                {
                    "name": "XLVD",
                    "type": "synonym"
                },
                {
                    "name": "XMVD",
                    "type": "synonym"
                }
            ],
            "record_id": "P21333-1",
            "evidence": [
                {
                    "id": "305620",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/305620"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C8E4-1",
            "uniprot_ac": "P0C8E4",
            "uniprot_id": "M3K7_RAT",
            "refseq_ac": "NP_001101390",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase kinase kinase 7",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.25",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta activated kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase 7-like",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase 7",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Map3k7",
                    "type": "recommended"
                },
                {
                    "name": "Map3k7",
                    "type": "synonym"
                },
                {
                    "name": "Tak1",
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                    "id": "0111785",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3Q6-1",
            "uniprot_ac": "Q9V3Q6",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase kinase kinase 7",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.25",
                    "type": "synonym"
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                {
                    "name": "CG18492-PA",
                    "type": "synonym"
                },
                {
                    "name": "TGF beta-activated kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta activated kinase 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta activated-kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta-activated kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "TGFbeta-activated kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Tak1-PA",
                    "type": "synonym"
                },
                {
                    "name": "dTAK1",
                    "type": "synonym"
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                {
                    "name": "transforming growth factor beta-activated kinase",
                    "type": "synonym"
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                {
                    "name": "transforming growth factor-beta activated kinase 1",
                    "type": "synonym"
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                {
                    "name": "transforming growth factor-beta-activated kinase 1",
                    "type": "synonym"
                }
            ],
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                    "name": "Tak1",
                    "type": "recommended"
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                {
                    "name": "CG1388",
                    "type": "synonym"
                },
                {
                    "name": "CG18492",
                    "type": "synonym"
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                {
                    "name": "D-TAK",
                    "type": "synonym"
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                {
                    "name": "D-tak",
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                },
                {
                    "name": "D10",
                    "type": "synonym"
                },
                {
                    "name": "DTAK1",
                    "type": "synonym"
                },
                {
                    "name": "DTak1",
                    "type": "synonym"
                },
                {
                    "name": "DTak",
                    "type": "synonym"
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                {
                    "name": "DmTak1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18492",
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                {
                    "name": "Dmel_CG18492",
                    "type": "synonym"
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                {
                    "name": "TAK-1",
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                {
                    "name": "TAK1",
                    "type": "synonym"
                },
                {
                    "name": "TAK",
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                },
                {
                    "name": "Tak 1",
                    "type": "synonym"
                },
                {
                    "name": "Tak1",
                    "type": "synonym"
                },
                {
                    "name": "Tak",
                    "type": "synonym"
                },
                {
                    "name": "dTAK-1",
                    "type": "synonym"
                },
                {
                    "name": "dTAK1",
                    "type": "synonym"
                },
                {
                    "name": "dTAK",
                    "type": "synonym"
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                {
                    "name": "dTak1",
                    "type": "synonym"
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                {
                    "name": "dTak",
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                {
                    "name": "dtak1",
                    "type": "synonym"
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                {
                    "name": "tak1",
                    "type": "synonym"
                },
                {
                    "name": "tak",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111785",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111785"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P83104-1",
            "uniprot_ac": "P83104",
            "uniprot_id": "M3K7L_DROME",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative mitogen-activated protein kinase kinase kinase 7-like",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.25",
                    "type": "synonym"
                },
                {
                    "name": "CG31421-PA",
                    "type": "synonym"
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                {
                    "name": "Tak1-like 1",
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                },
                {
                    "name": "Takl1-PA",
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                {
                    "name": "extra2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "Takl1",
                    "type": "recommended"
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                {
                    "name": "CG31421",
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                },
                {
                    "name": "Dmel\\CG31421",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0046689",
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                {
                    "name": "TAKL1",
                    "type": "synonym"
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                {
                    "name": "Takl1",
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                {
                    "name": "anon-AE003732.1",
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                    "name": "takl1",
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            ],
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                    "id": "0111785",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111785"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43318-1",
            "uniprot_ac": "O43318",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase kinase kinase 7",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.25",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta activated kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta-activated kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Transforming growth factor-beta-activated kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase 7 isoform A",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor-beta-activated kinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAP3K7",
                    "type": "recommended"
                },
                {
                    "name": "CSCF",
                    "type": "synonym"
                },
                {
                    "name": "FMD2",
                    "type": "synonym"
                },
                {
                    "name": "MAP3K7",
                    "type": "synonym"
                },
                {
                    "name": "MEKK7",
                    "type": "synonym"
                },
                {
                    "name": "TAK1",
                    "type": "synonym"
                },
                {
                    "name": "TGF1a",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111785",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111785"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111785"
}