{
    "disease_id": "DOID:0080589",
    "recommended_name": {
        "id": "DOID:0080589",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080589",
        "name": "Klippel-Feil syndrome 1",
        "description": "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0007306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007306",
            "name": "Klippel-Feil syndrome 1, autosomal dominant",
            "description": "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene."
        },
        {
            "id": "MONDO:0007306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007306",
            "name": "Klippel-Feil Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007306",
            "name": "GDF6 isolated Klippel-Feil syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007306",
            "name": "Klippel-Feil syndrome 1, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007306",
            "name": "isolated Klippel-Feil syndrome caused by mutation in GDF6",
            "description": ""
        },
        {
            "id": "MONDO:0007306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007306",
            "name": "KFS1",
            "description": ""
        },
        {
            "id": "MIM:118100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/118100",
            "name": "Klippel-Feil syndrome 1, autosomal dominant",
            "description": "Klippel-Feil syndrome 1, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080589"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080589",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080589",
            "categories": []
        },
        {
            "id": "MONDO:0007306",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007306",
            "categories": []
        },
        {
            "id": "MIM:118100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/118100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P85857-1",
            "uniprot_ac": "P85857",
            "uniprot_id": "GDF6A_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 6-A",
                    "type": "recommended"
                },
                {
                    "name": "GDF-6-A",
                    "type": "synonym"
                },
                {
                    "name": "Growth differentiation factor 6A",
                    "type": "synonym"
                },
                {
                    "name": "Protein radar",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gdf6a",
                    "type": "recommended"
                },
                {
                    "name": "bmp13a",
                    "type": "synonym"
                },
                {
                    "name": "cb278",
                    "type": "synonym"
                },
                {
                    "name": "radar",
                    "type": "synonym"
                },
                {
                    "name": "rdr",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb278",
                    "type": "synonym"
                }
            ],
            "record_id": "P85857-1",
            "evidence": [
                {
                    "id": "0080589",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080589"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8E7N9-1",
            "uniprot_ac": "A8E7N9",
            "uniprot_id": "GDF6B_DANRE",
            "refseq_ac": "NP_571062",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 6-B",
                    "type": "recommended"
                },
                {
                    "name": "GDF-6-B",
                    "type": "synonym"
                },
                {
                    "name": "Growth differentiation factor 6b",
                    "type": "synonym"
                },
                {
                    "name": "Protein dynamo",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 6-B precursor",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 6-B",
                    "type": "synonym"
                },
                {
                    "name": "protein dynamo",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gdf6b",
                    "type": "recommended"
                },
                {
                    "name": "bmp13b",
                    "type": "synonym"
                },
                {
                    "name": "dynamo",
                    "type": "synonym"
                },
                {
                    "name": "gdf6a",
                    "type": "synonym"
                },
                {
                    "name": "gdf6b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-244a23.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A8E7N9-1",
            "evidence": [
                {
                    "id": "0080589",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080589"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43028-1",
            "uniprot_ac": "P43028",
            "uniprot_id": "GDF6_MOUSE",
            "refseq_ac": "NP_038554",
            "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 6",
                    "type": "recommended"
                },
                {
                    "name": "BMP-13",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 13",
                    "type": "synonym"
                },
                {
                    "name": "GDF-6",
                    "type": "synonym"
                },
                {
                    "name": "Growth/differentiation factor 16",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 13",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 16",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 6 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdf6",
                    "type": "recommended"
                },
                {
                    "name": "BMP-13",
                    "type": "synonym"
                },
                {
                    "name": "BMP13",
                    "type": "synonym"
                },
                {
                    "name": "Bmp13",
                    "type": "synonym"
                },
                {
                    "name": "GDF16",
                    "type": "synonym"
                },
                {
                    "name": "Gdf-6",
                    "type": "synonym"
                },
                {
                    "name": "Gdf16",
                    "type": "synonym"
                },
                {
                    "name": "Gdf6",
                    "type": "synonym"
                }
            ],
            "record_id": "P43028-1",
            "evidence": [
                {
                    "id": "0080589",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080589"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6KF10-1",
            "uniprot_ac": "Q6KF10",
            "uniprot_id": "GDF6_HUMAN",
            "refseq_ac": "NP_001001557",
            "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 6",
                    "type": "recommended"
                },
                {
                    "name": "BMP-13",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 13",
                    "type": "synonym"
                },
                {
                    "name": "GDF-6",
                    "type": "synonym"
                },
                {
                    "name": "Growth/differentiation factor 16",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 13",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 16",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 6 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GDF6",
                    "type": "recommended"
                },
                {
                    "name": "BMP-13",
                    "type": "synonym"
                },
                {
                    "name": "BMP13",
                    "type": "synonym"
                },
                {
                    "name": "CDMP2",
                    "type": "synonym"
                },
                {
                    "name": "GDF16",
                    "type": "synonym"
                },
                {
                    "name": "GDF6",
                    "type": "synonym"
                },
                {
                    "name": "KFM",
                    "type": "synonym"
                },
                {
                    "name": "KFS1",
                    "type": "synonym"
                },
                {
                    "name": "KFSL",
                    "type": "synonym"
                },
                {
                    "name": "KFS",
                    "type": "synonym"
                },
                {
                    "name": "SGM1",
                    "type": "synonym"
                },
                {
                    "name": "SYNS4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6KF10-1",
            "evidence": [
                {
                    "id": "118100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/118100"
                },
                {
                    "id": "0080589",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080589"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6HA10-1",
            "uniprot_ac": "Q6HA10",
            "uniprot_id": "GDF6_RAT",
            "refseq_ac": "NP_001013056",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 6",
                    "type": "recommended"
                },
                {
                    "name": "BMP-13",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 13",
                    "type": "synonym"
                },
                {
                    "name": "GDF-6",
                    "type": "synonym"
                },
                {
                    "name": "Growth/differentiation factor 16",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 13",
                    "type": "synonym"
                },
                {
                    "name": "growth differentiation factor 16",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 6 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdf6",
                    "type": "recommended"
                },
                {
                    "name": "BMP-13",
                    "type": "synonym"
                },
                {
                    "name": "Bmp13",
                    "type": "synonym"
                },
                {
                    "name": "Gdf16",
                    "type": "synonym"
                },
                {
                    "name": "Gdf6",
                    "type": "synonym"
                },
                {
                    "name": "gdf16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6HA10-1",
            "evidence": [
                {
                    "id": "0080589",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080589"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080589"
}