{
    "disease_id": "DOID:0080590",
    "recommended_name": {
        "id": "DOID:0080590",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080590",
        "name": "Klippel-Feil syndrome 2",
        "description": "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0008958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008958",
            "name": "Klippel-Feil syndrome 2, autosomal recessive",
            "description": "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene."
        },
        {
            "id": "MONDO:0008958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008958",
            "name": "Klippel-Feil syndrome 2, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0008958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008958",
            "name": "MEOX1 isolated Klippel-Feil syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008958",
            "name": "isolated Klippel-Feil syndrome caused by mutation in MEOX1",
            "description": ""
        },
        {
            "id": "MONDO:0008958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008958",
            "name": "KFS2",
            "description": ""
        },
        {
            "id": "MIM:214300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/214300",
            "name": "Klippel-Feil syndrome 2, autosomal recessive",
            "description": "Klippel-Feil syndrome 2, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080590"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080590",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080590",
            "categories": []
        },
        {
            "id": "MONDO:0008958",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008958",
            "categories": []
        },
        {
            "id": "MIM:214300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/214300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q4R9-1",
            "uniprot_ac": "F1Q4R9",
            "uniprot_id": "MEOX1_DANRE",
            "refseq_ac": "NP_001002450",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein MOX-1",
                    "type": "recommended"
                },
                {
                    "name": "Mesenchyme homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein choker",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein MOX-1",
                    "type": "synonym"
                },
                {
                    "name": "protein choker",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "meox1",
                    "type": "recommended"
                },
                {
                    "name": "choker",
                    "type": "synonym"
                },
                {
                    "name": "cho",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd2838",
                    "type": "synonym"
                },
                {
                    "name": "meox1",
                    "type": "synonym"
                },
                {
                    "name": "mox2",
                    "type": "synonym"
                },
                {
                    "name": "mox",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92343",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q4R9-1",
            "evidence": [
                {
                    "id": "0080590",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080590"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32442-1",
            "uniprot_ac": "P32442",
            "uniprot_id": "MEOX1_MOUSE",
            "refseq_ac": "NP_034921",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein MOX-1",
                    "type": "recommended"
                },
                {
                    "name": "Mesenchyme homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein MOX-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Meox1",
                    "type": "recommended"
                },
                {
                    "name": "D330041M02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Meox1",
                    "type": "synonym"
                },
                {
                    "name": "Mox-1",
                    "type": "synonym"
                },
                {
                    "name": "Mox1",
                    "type": "synonym"
                },
                {
                    "name": "squig",
                    "type": "synonym"
                }
            ],
            "record_id": "P32442-1",
            "evidence": [
                {
                    "id": "0080590",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080590"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50221-1",
            "uniprot_ac": "P50221",
            "uniprot_id": "MEOX1_HUMAN",
            "refseq_ac": "NP_001035091",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein MOX-1",
                    "type": "recommended"
                },
                {
                    "name": "Mesenchyme homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein MOX-1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein MOX-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MEOX1",
                    "type": "recommended"
                },
                {
                    "name": "KFS2",
                    "type": "synonym"
                },
                {
                    "name": "MEOX1",
                    "type": "synonym"
                },
                {
                    "name": "MOX1",
                    "type": "synonym"
                }
            ],
            "record_id": "P50221-1",
            "evidence": [
                {
                    "id": "214300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/214300"
                },
                {
                    "id": "0080590",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080590"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A532-1",
            "uniprot_ac": "D4A532",
            "uniprot_id": "D4A532_RAT",
            "refseq_ac": "NP_001102307",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein MOX-1",
                    "type": "recommended"
                },
                {
                    "name": "Mesenchyme homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein MOX-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Meox1",
                    "type": "recommended"
                },
                {
                    "name": "Meox1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A532-1",
            "evidence": [
                {
                    "id": "0080590",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080590"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCY0-1",
            "uniprot_ac": "Q9VCY0",
            "uniprot_id": "Q9VCY0_DROME",
            "refseq_ac": "NP_732768",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Buttonless",
                    "type": "synonym"
                },
                {
                    "name": "CG5264-PA",
                    "type": "synonym"
                },
                {
                    "name": "btn-PA",
                    "type": "synonym"
                },
                {
                    "name": "buttonless",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "btn",
                    "type": "recommended"
                },
                {
                    "name": "1261/13",
                    "type": "synonym"
                },
                {
                    "name": "13",
                    "type": "synonym"
                },
                {
                    "name": "BTN",
                    "type": "synonym"
                },
                {
                    "name": "CG5264",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5264",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5264",
                    "type": "synonym"
                },
                {
                    "name": "MEOX",
                    "type": "synonym"
                },
                {
                    "name": "btn/MEOX",
                    "type": "synonym"
                },
                {
                    "name": "btn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCY0-1",
            "evidence": [
                {
                    "id": "0080590",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080590"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080590"
}