{
    "disease_id": "DOID:0080593",
    "recommended_name": {
        "id": "DOID:0080593",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080593",
        "name": "orofacial cleft 6",
        "description": "An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "MONDO:0012141",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012141",
            "name": "orofacial cleft 6, susceptibility to",
            "description": "Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene."
        },
        {
            "id": "MONDO:0012141",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012141",
            "name": "IRF6 orofacial cleft",
            "description": ""
        },
        {
            "id": "MONDO:0012141",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012141",
            "name": "orofacial cleft 6, susceptibility to",
            "description": ""
        },
        {
            "id": "MONDO:0012141",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012141",
            "name": "orofacial cleft caused by mutation in IRF6",
            "description": ""
        },
        {
            "id": "MONDO:0012141",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012141",
            "name": "OFC6",
            "description": ""
        },
        {
            "id": "MIM:608864",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608864",
            "name": "Non-syndromic orofacial cleft 6",
            "description": "Non-syndromic orofacial cleft 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080593"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080593",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080593",
            "categories": []
        },
        {
            "id": "MONDO:0012141",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012141",
            "categories": []
        },
        {
            "id": "MIM:608864",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608864",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PGZ7-1",
            "uniprot_ac": "Q6PGZ7",
            "uniprot_id": "Q6PGZ7_DANRE",
            "refseq_ac": "NP_956892",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon regulatory factor 6",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "irf6",
                    "type": "recommended"
                },
                {
                    "name": "irf6",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63500",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PGZ7-1",
            "evidence": [
                {
                    "id": "0080593",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080593"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97431-1",
            "uniprot_ac": "P97431",
            "uniprot_id": "IRF6_MOUSE",
            "refseq_ac": "NP_058547",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon regulatory factor 6",
                    "type": "recommended"
                },
                {
                    "name": "IRF-6",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irf6",
                    "type": "recommended"
                },
                {
                    "name": "E230028I05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Irf6",
                    "type": "synonym"
                },
                {
                    "name": "mirf6",
                    "type": "synonym"
                }
            ],
            "record_id": "P97431-1",
            "evidence": [
                {
                    "id": "0080593",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080593"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14896-1",
            "uniprot_ac": "O14896",
            "uniprot_id": "IRF6_HUMAN",
            "refseq_ac": "NP_001193625",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon regulatory factor 6",
                    "type": "recommended"
                },
                {
                    "name": "IRF-6",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 6 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IRF6",
                    "type": "recommended"
                },
                {
                    "name": "IRF6",
                    "type": "synonym"
                },
                {
                    "name": "LPS",
                    "type": "synonym"
                },
                {
                    "name": "OFC6",
                    "type": "synonym"
                },
                {
                    "name": "PIT",
                    "type": "synonym"
                },
                {
                    "name": "PPS1",
                    "type": "synonym"
                },
                {
                    "name": "PPS",
                    "type": "synonym"
                },
                {
                    "name": "VWS1",
                    "type": "synonym"
                },
                {
                    "name": "VWS",
                    "type": "synonym"
                }
            ],
            "record_id": "O14896-1",
            "evidence": [
                {
                    "id": "608864",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608864"
                },
                {
                    "id": "0080593",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080593"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AAV0-1",
            "uniprot_ac": "D4AAV0",
            "uniprot_id": "D4AAV0_RAT",
            "refseq_ac": "NP_001102329",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon regulatory factor 6",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irf6",
                    "type": "recommended"
                },
                {
                    "name": "Irf6",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AAV0-1",
            "evidence": [
                {
                    "id": "0080593",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080593"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080593"
}