{
    "disease_id": "DOID:0081318",
    "recommended_name": {
        "id": "DOID:0081318",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081318",
        "name": "multiple synostoses syndrome 2",
        "description": "A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0012394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012394",
            "name": "multiple synostoses syndrome 2",
            "description": "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene."
        },
        {
            "id": "MONDO:0012394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012394",
            "name": "GDF5 multiple synostoses syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012394",
            "name": "multiple synostoses syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012394",
            "name": "multiple synostoses syndrome caused by mutation in GDF5",
            "description": ""
        },
        {
            "id": "MONDO:0012394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012394",
            "name": "multiple synostoses syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012394",
            "name": "SYNS2",
            "description": ""
        },
        {
            "id": "MIM:610017",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610017",
            "name": "Multiple synostoses syndrome 2",
            "description": "Multiple synostoses syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081318"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081318",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081318",
            "categories": []
        },
        {
            "id": "MONDO:0012394",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012394",
            "categories": []
        },
        {
            "id": "MIM:610017",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610017",
            "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]"
                }
            ],
            "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": "0081318",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081318"
                }
            ]
        },
        {
            "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": "0081318",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081318"
                }
            ]
        },
        {
            "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"
                },
                {
                    "name": "BMP-14",
                    "type": "synonym"
                },
                {
                    "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"
                }
            ],
            "record_id": "P43026-1",
            "evidence": [
                {
                    "id": "610017",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610017"
                },
                {
                    "id": "0081318",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081318"
                }
            ]
        },
        {
            "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"
                }
            ],
            "record_id": "M0RAY4-1",
            "evidence": [
                {
                    "id": "0081318",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081318"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081318"
}