{
    "disease_id": "DOID:0050794",
    "recommended_name": {
        "id": "DOID:0050794",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050794",
        "name": "multiple synostoses syndrome",
        "description": "A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion."
    },
    "synonyms": [
        {
            "id": "MONDO:0008519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008519",
            "name": "multiple synostoses syndrome 1",
            "description": "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene."
        },
        {
            "id": "MONDO:0008519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008519",
            "name": "NOG multiple synostoses syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008519",
            "name": "multiple synostoses syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008519",
            "name": "multiple synostoses syndrome caused by mutation in NOG",
            "description": ""
        },
        {
            "id": "MONDO:0008519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008519",
            "name": "multiple synostoses syndrome caused by mutation in nog",
            "description": ""
        },
        {
            "id": "MONDO:0008519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008519",
            "name": "multiple synostoses syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008519",
            "name": "nog multiple synostoses syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008519",
            "name": "SYNS1",
            "description": ""
        },
        {
            "id": "MONDO:0008519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008519",
            "name": "symphalangism brachydactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008519",
            "name": "synostoses multiple with brachydactyly",
            "description": ""
        },
        {
            "id": "MIM:186500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/186500",
            "name": "Multiple synostoses syndrome 1",
            "description": "Multiple synostoses syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0081317",
            "label": "multiple synostoses syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081318",
            "label": "multiple synostoses syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081319",
            "label": "multiple synostoses syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081320",
            "label": "multiple synostoses syndrome 4",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0050794",
        "DOID:0081318",
        "DOID:0081319",
        "DOID:0081320",
        "DOID:0081317"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050794",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050794",
            "categories": []
        },
        {
            "id": "MONDO:0008519",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008519",
            "categories": []
        },
        {
            "id": "MIM:186500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/186500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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]"
                }
            ],
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                {
                    "name": "Growth/differentiation factor 5 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 5 isoform X1",
                    "type": "synonym"
                }
            ],
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                    "name": "gdf5",
                    "type": "recommended"
                },
                {
                    "name": "gdf5",
                    "type": "synonym"
                }
            ],
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                    "id": "0050794",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050794"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54130-1",
            "uniprot_ac": "P54130",
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            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 9",
                    "type": "recommended"
                },
                {
                    "name": "FGF-9",
                    "type": "synonym"
                },
                {
                    "name": "GAF",
                    "type": "synonym"
                },
                {
                    "name": "Glia-activating factor",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-9",
                    "type": "synonym"
                },
                {
                    "name": "elbow knee synostosis",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 4b",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 9 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "glia-activating factor",
                    "type": "synonym"
                }
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                {
                    "name": "Fgf9",
                    "type": "recommended"
                },
                {
                    "name": "Eks",
                    "type": "synonym"
                },
                {
                    "name": "FGF-9",
                    "type": "synonym"
                },
                {
                    "name": "Fgf-9",
                    "type": "synonym"
                },
                {
                    "name": "Fgf4b",
                    "type": "synonym"
                },
                {
                    "name": "Fgf9",
                    "type": "synonym"
                },
                {
                    "name": "GAF",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-9",
                    "type": "synonym"
                }
            ],
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                    "id": "0050794",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P43027-1",
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                {
                    "name": "Mus musculus",
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                    "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",
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                {
                    "id": "0050794",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050794"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13253-1",
            "uniprot_ac": "Q13253",
            "uniprot_id": "NOGG_HUMAN",
            "refseq_ac": "NP_005441",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Noggin",
                    "type": "recommended"
                },
                {
                    "name": "noggin precursor",
                    "type": "synonym"
                },
                {
                    "name": "symphalangism 1 (proximal)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NOG",
                    "type": "recommended"
                },
                {
                    "name": "NOG",
                    "type": "synonym"
                },
                {
                    "name": "SYM1",
                    "type": "synonym"
                },
                {
                    "name": "SYNS1A",
                    "type": "synonym"
                },
                {
                    "name": "SYNS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13253-1",
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                {
                    "id": "186500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/186500"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RAY4-1",
            "uniprot_ac": "M0RAY4",
            "uniprot_id": "M0RAY4_RAT",
            "refseq_ac": "NP_001385590",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 5",
                    "type": "recommended"
                },
                {
                    "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": "Cdmp1",
                    "type": "synonym"
                },
                {
                    "name": "Gdf5",
                    "type": "synonym"
                }
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                    "id": "0050794",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050794"
                }
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        {
            "uniprot_canonical_ac": "P36364-1",
            "uniprot_ac": "P36364",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
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                }
            ],
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                    "name": "Fibroblast growth factor 9",
                    "type": "recommended"
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                    "name": "FGF-9",
                    "type": "synonym"
                },
                {
                    "name": "GAF",
                    "type": "synonym"
                },
                {
                    "name": "Glia-activating factor",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-9",
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                },
                {
                    "name": "fibroblast growth factor 4b",
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                {
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                    "id": "0050794",
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                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 12 member 4",
                    "type": "recommended"
                },
                {
                    "name": "Electroneutral potassium-chloride cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Erythroid K-Cl cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Furosemide-sensitive K-Cl cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "electroneutral potassium-chloride cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "erythroid K-Cl cotransporter 1",
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                },
                {
                    "name": "furosemide-sensitive K-Cl cotransporter",
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                {
                    "name": "rKCC1",
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                {
                    "name": "solute carrier family 12 (potassium/chloride transporter), member 4",
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                {
                    "name": "solute carrier family 12 (potassium/chloride transporters), member 4",
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                {
                    "name": "solute carrier family 12 member 4",
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                    "name": "Slc12a4",
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                    "id": "0050794",
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                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
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                    "name": "Cytochrome P450 2A6",
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                    "name": "1,4-cineole 2-exo-monooxygenase",
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                {
                    "name": "1.14.14.-",
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                {
                    "name": "CYPIIA6",
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                {
                    "name": "Coumarin 7-hydroxylase",
                    "type": "synonym"
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                {
                    "name": "Cytochrome P450(I)",
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                {
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                },
                {
                    "name": "cytochrome P450(I)",
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                {
                    "name": "cytochrome P450, family 2, subfamily A, polypeptide 6",
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                },
                {
                    "name": "cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6",
                    "type": "synonym"
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                {
                    "name": "flavoprotein-linked monooxygenase",
                    "type": "synonym"
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                {
                    "name": "xenobiotic monooxygenase",
                    "type": "synonym"
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                    "name": "CPA6",
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                    "name": "CYP2A",
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                    "id": "0050794",
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                    "name": "CDMP-1",
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                {
                    "name": "Cartilage-derived morphogenetic protein 1",
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                    "name": "GDF-5",
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                    "name": "LAP-4",
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                {
                    "name": "LPS-associated protein 4",
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                },
                {
                    "name": "Lipopolysaccharide-associated protein 4",
                    "type": "synonym"
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                    "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"
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                {
                    "name": "radotermin",
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                }
            ],
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                    "name": "GDF5",
                    "type": "recommended"
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                    "name": "BDA1C",
                    "type": "synonym"
                },
                {
                    "name": "BMP-14",
                    "type": "synonym"
                },
                {
                    "name": "BMP14",
                    "type": "synonym"
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                {
                    "name": "CDMP1",
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                },
                {
                    "name": "DUPANS",
                    "type": "synonym"
                },
                {
                    "name": "GDF5",
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                {
                    "name": "LAP-4",
                    "type": "synonym"
                },
                {
                    "name": "LAP4",
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                },
                {
                    "name": "OS5",
                    "type": "synonym"
                },
                {
                    "name": "SYM1B",
                    "type": "synonym"
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                {
                    "name": "SYNS2",
                    "type": "synonym"
                }
            ],
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                    "id": "0050794",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31371-1",
            "uniprot_ac": "P31371",
            "uniprot_id": "FGF9_HUMAN",
            "refseq_ac": "NP_002001",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 9",
                    "type": "recommended"
                },
                {
                    "name": "FGF-9",
                    "type": "synonym"
                },
                {
                    "name": "GAF",
                    "type": "synonym"
                },
                {
                    "name": "Glia-activating factor",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-9",
                    "type": "synonym"
                },
                {
                    "name": "Heparin-binding growth factor 9",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 9 (glia-activating factor)",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 9 precursor",
                    "type": "synonym"
                },
                {
                    "name": "heparin-binding growth factor 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGF9",
                    "type": "recommended"
                },
                {
                    "name": "FGF-9",
                    "type": "synonym"
                },
                {
                    "name": "FGF9",
                    "type": "synonym"
                },
                {
                    "name": "GAF",
                    "type": "synonym"
                },
                {
                    "name": "HBFG-9",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-9",
                    "type": "synonym"
                },
                {
                    "name": "SYNS3",
                    "type": "synonym"
                }
            ],
            "record_id": "P31371-1",
            "evidence": [
                {
                    "id": "0050794",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050794"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050794"
}