{
    "disease_id": "DOID:0081319",
    "recommended_name": {
        "id": "DOID:0081319",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081319",
        "name": "multiple synostoses syndrome 3",
        "description": "A multiple synostoses syndrome that is 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 and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0013064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013064",
            "name": "multiple synostoses syndrome 3",
            "description": "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene."
        },
        {
            "id": "MONDO:0013064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013064",
            "name": "FGF9 multiple synostoses syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013064",
            "name": "multiple synostoses syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013064",
            "name": "multiple synostoses syndrome caused by mutation in FGF9",
            "description": ""
        },
        {
            "id": "MONDO:0013064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013064",
            "name": "multiple synostoses syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013064",
            "name": "SYNS3",
            "description": ""
        },
        {
            "id": "MIM:612961",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612961",
            "name": "Multiple synostoses syndrome 3",
            "description": "Multiple synostoses syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081319"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081319",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081319",
            "categories": []
        },
        {
            "id": "MONDO:0013064",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013064",
            "categories": []
        },
        {
            "id": "MIM:612961",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612961",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P54130-1",
            "uniprot_ac": "P54130",
            "uniprot_id": "FGF9_MOUSE",
            "refseq_ac": "NP_038546",
            "glycoprotein": "yes",
            "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"
                }
            ],
            "gene_names": [
                {
                    "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"
                }
            ],
            "record_id": "P54130-1",
            "evidence": [
                {
                    "id": "0081319",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081319"
                }
            ]
        },
        {
            "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": "612961",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612961"
                },
                {
                    "id": "0081319",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081319"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36364-1",
            "uniprot_ac": "P36364",
            "uniprot_id": "FGF9_RAT",
            "refseq_ac": "NP_037084",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "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": "fibroblast growth factor 4b",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 9",
                    "type": "synonym"
                },
                {
                    "name": "glia-activating factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf9",
                    "type": "recommended"
                },
                {
                    "name": "Fgf-9",
                    "type": "synonym"
                },
                {
                    "name": "Fgf4b",
                    "type": "synonym"
                },
                {
                    "name": "Fgf9",
                    "type": "synonym"
                }
            ],
            "record_id": "P36364-1",
            "evidence": [
                {
                    "id": "0081319",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081319"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63632-1",
            "uniprot_ac": "Q63632",
            "uniprot_id": "S12A4_RAT",
            "refseq_ac": "NP_062102",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "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",
                    "type": "synonym"
                },
                {
                    "name": "furosemide-sensitive K-Cl cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "rKCC1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 (potassium/chloride transporter), member 4",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 (potassium/chloride transporters), member 4",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc12a4",
                    "type": "recommended"
                },
                {
                    "name": "Kcc1",
                    "type": "synonym"
                },
                {
                    "name": "Slc12a4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63632-1",
            "evidence": [
                {
                    "id": "0081319",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081319"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11509-1",
            "uniprot_ac": "P11509",
            "uniprot_id": "CP2A6_HUMAN",
            "refseq_ac": "NP_000753",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 2A6",
                    "type": "recommended"
                },
                {
                    "name": "1,4-cineole 2-exo-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.-",
                    "type": "synonym"
                },
                {
                    "name": "CYPIIA6",
                    "type": "synonym"
                },
                {
                    "name": "Coumarin 7-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 IIA3",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450(I)",
                    "type": "synonym"
                },
                {
                    "name": "coumarin 7-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 2A6",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 IIA3",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450(I)",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 2, subfamily A, polypeptide 6",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6",
                    "type": "synonym"
                },
                {
                    "name": "flavoprotein-linked monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "xenobiotic monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP2A6",
                    "type": "recommended"
                },
                {
                    "name": "CPA6",
                    "type": "synonym"
                },
                {
                    "name": "CYP2A3",
                    "type": "synonym"
                },
                {
                    "name": "CYP2A6",
                    "type": "synonym"
                },
                {
                    "name": "CYP2A",
                    "type": "synonym"
                },
                {
                    "name": "CYPIIA6",
                    "type": "synonym"
                },
                {
                    "name": "P450C2A",
                    "type": "synonym"
                },
                {
                    "name": "P450PB",
                    "type": "synonym"
                }
            ],
            "record_id": "P11509-1",
            "evidence": [
                {
                    "id": "0081319",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081319"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081319"
}