{
    "disease_id": "DOID:0060239",
    "recommended_name": {
        "id": "DOID:0060239",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060239",
        "name": "Van der Woude syndrome",
        "description": "A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone."
    },
    "synonyms": [
        {
            "id": "MONDO:0011712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011712",
            "name": "van der Woude syndrome 2",
            "description": "Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene."
        },
        {
            "id": "MONDO:0011712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011712",
            "name": "GRHL3 van der Woude syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011712",
            "name": "Van Der Woude syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011712",
            "name": "van der Woude syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011712",
            "name": "van der Woude syndrome caused by mutation in GRHL3",
            "description": ""
        },
        {
            "id": "MONDO:0011712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011712",
            "name": "VAN DER Woude syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011712",
            "name": "VWS2",
            "description": ""
        },
        {
            "id": "MONDO:0007333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007333",
            "name": "van der Woude syndrome 1",
            "description": "Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene."
        },
        {
            "id": "MONDO:0007333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007333",
            "name": "IRF6 van der Woude syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007333",
            "name": "Van Der Woude syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007333",
            "name": "van der Woude syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0007333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007333",
            "name": "van der Woude syndrome caused by mutation in IRF6",
            "description": ""
        },
        {
            "id": "MONDO:0007333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007333",
            "name": "VAN DER Woude syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0007333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007333",
            "name": "VWS1",
            "description": ""
        },
        {
            "id": "MONDO:0007333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007333",
            "name": "Vdws",
            "description": ""
        },
        {
            "id": "MONDO:0007333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007333",
            "name": "cleft lip and/or palate with mucous cysts of Lower lip",
            "description": ""
        },
        {
            "id": "MONDO:0007333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007333",
            "name": "lip-pit syndrome",
            "description": ""
        },
        {
            "id": "MIM:606713",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606713",
            "name": "Van der Woude syndrome 2",
            "description": "Van der Woude syndrome 2"
        },
        {
            "id": "MIM:119300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/119300",
            "name": "Van der Woude syndrome 1",
            "description": "Van der Woude syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060239"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060239",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060239",
            "categories": []
        },
        {
            "id": "MONDO:0011712",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011712",
            "categories": []
        },
        {
            "id": "MONDO:0007333",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007333",
            "categories": []
        },
        {
            "id": "MIM:606713",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606713",
            "categories": []
        },
        {
            "id": "MIM:119300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/119300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P13002-6",
            "uniprot_ac": "P13002",
            "uniprot_id": "ELF1_DROME",
            "refseq_ac": "NP_001246401",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein grainyhead",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG42311-PO; grh-PO; suppressor of NA9 2-1; grainy head; grainyhead; head skeleton; neuronal transcription factor 1; decapentaplegic repression element binding protein; element I binding activity; neurogenic element binding transcription factor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "DNA-binding protein ELF-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Element I-binding activity",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein grainy-head",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor NTF-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "grainy head, isoform O",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grh",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD38807; CG30111; CG42311; CG5058; Dmel\\CG42311; DREB; EG:191D12.1; Elf-1; Elf-1/NTF-1; elf1; Elf1; ELF1; elf1(CAG)[[7]]; Gh; Grh; GRH; hsk; l(2)06850; l(2)IM45; l(2)s2140; Ntf; NTF; ntf-1; NTF-1; NTF-1/Elf-1; Ntf1; NTF1; SN2-1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG5058",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "elf1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "grh",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060239",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060239"
                }
            ]
        },
        {
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "IRF-6",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "IRF-6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 6",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irf6",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "E230028I05Rik; mirf6",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Irf6",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060239",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FWH3-1",
            "uniprot_ac": "Q5FWH3",
            "uniprot_id": "GRHL3_MOUSE",
            "refseq_ac": "NP_001013778",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Grainyhead-like protein 3 homolog",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Transcription factor CP2-like 4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "grainyhead-like protein 3 homolog isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "grainyhead-like protein 3 homolog; transcription factor CP2-like 4; transcription factor hSOM1; sister-of-mammalian grainyhead",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grhl3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Get1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Grhl3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Som",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tfcp2l4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ct; Get1; Som; Tfcp2l4",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060239",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TE85-1",
            "uniprot_ac": "Q8TE85",
            "uniprot_id": "GRHL3_HUMAN",
            "refseq_ac": "NP_001181939",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Grainyhead-like protein 3 homolog",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Sister of mammalian grainyhead",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor CP2-like 4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "grainyhead-like protein 3 homolog isoform 4",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor CP2-like 4; transcription factor hSOM1; grainyhead-like protein 3 homolog; sister of mammalian grainyhead",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRHL3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "GRHL3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SOM; TFCP2L4; VWS2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SOM",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TFCP2L4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060239",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060239"
                },
                {
                    "id": "606713",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606713"
                }
            ]
        },
        {
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "IRF-6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 6 isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IRF6",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "IRF6",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060239",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060239"
                },
                {
                    "id": "119300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/119300"
                }
            ]
        },
        {
            "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",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Irf6 protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 6",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "irf6",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "irf6",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63500",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63500",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060239",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2B5G5-1",
            "uniprot_ac": "A0A8M2B5G5",
            "uniprot_id": "A0A8M2B5G5_DANRE",
            "refseq_ac": "XP_005158615",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Grainyhead-like protein 3 homolog isoform X1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "grainyhead-like protein 3 homolog isoform X1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grhl3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "grhl3",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060239",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060239"
                }
            ]
        },
        {
            "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",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 6",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irf6",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Irf6",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060239",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZM46-1",
            "uniprot_ac": "A0A8I5ZM46",
            "uniprot_id": "A0A8I5ZM46_RAT",
            "refseq_ac": "NP_001402762",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Grainyhead-like transcription factor 3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "grainyhead-like protein 3 homolog isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor CP2-like 4; grainyhead-like protein 3 homolog; grainyhead-like 3",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grhl3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Grhl3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Tfcp2l4",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060239",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060239"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060239"
}