{
    "disease_id": "DOID:0080408",
    "recommended_name": {
        "id": "DOID:0080408",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080408",
        "name": "orofacial cleft 15",
        "description": "An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0014772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014772",
            "name": "orofacial cleft 15",
            "description": "Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene."
        },
        {
            "id": "MONDO:0014772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014772",
            "name": "DLX4 cleft lip/palate",
            "description": ""
        },
        {
            "id": "MONDO:0014772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014772",
            "name": "OFC15",
            "description": ""
        },
        {
            "id": "MONDO:0014772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014772",
            "name": "cleft lip/palate caused by mutation in DLX4",
            "description": ""
        },
        {
            "id": "MONDO:0014772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014772",
            "name": "orofacial cleft 15",
            "description": ""
        },
        {
            "id": "MONDO:0014772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014772",
            "name": "orofacial cleft type 15",
            "description": ""
        },
        {
            "id": "MIM:616788",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616788",
            "name": "Non-syndromic orofacial cleft 15",
            "description": "Non-syndromic orofacial cleft 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080408"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080408",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080408",
            "categories": []
        },
        {
            "id": "MONDO:0014772",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014772",
            "categories": []
        },
        {
            "id": "MIM:616788",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616788",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q98878-1",
            "uniprot_ac": "Q98878",
            "uniprot_id": "DLX4B_DANRE",
            "refseq_ac": "NP_571393",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Dlx4b",
                    "type": "recommended"
                },
                {
                    "name": "DLX-7",
                    "type": "synonym"
                },
                {
                    "name": "Distal-less homeobox protein 4b",
                    "type": "synonym"
                },
                {
                    "name": "distal-less homeobox gene 4b",
                    "type": "synonym"
                },
                {
                    "name": "distal-less homeobox gene 7",
                    "type": "synonym"
                },
                {
                    "name": "distal-less homeobox protein 4b",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Dlx4b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dlx4b",
                    "type": "recommended"
                },
                {
                    "name": "dlx4b",
                    "type": "synonym"
                },
                {
                    "name": "dlx7",
                    "type": "synonym"
                },
                {
                    "name": "fj03c01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj03c01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109858",
                    "type": "synonym"
                }
            ],
            "record_id": "Q98878-1",
            "evidence": [
                {
                    "id": "0080408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q98879-1",
            "uniprot_ac": "Q98879",
            "uniprot_id": "DLX4A_DANRE",
            "refseq_ac": "NP_571375",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Dlx4a",
                    "type": "recommended"
                },
                {
                    "name": "DLX-8",
                    "type": "synonym"
                },
                {
                    "name": "Distal-less homeobox protein 4a",
                    "type": "synonym"
                },
                {
                    "name": "distal-less homeobox gene 4a",
                    "type": "synonym"
                },
                {
                    "name": "distal-less homeobox gene 8",
                    "type": "synonym"
                },
                {
                    "name": "distal-less homeobox protein 4a",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Dlx4a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dlx4a",
                    "type": "recommended"
                },
                {
                    "name": "DLX-8",
                    "type": "synonym"
                },
                {
                    "name": "dlx4a",
                    "type": "synonym"
                },
                {
                    "name": "dlx8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q98879-1",
            "evidence": [
                {
                    "id": "0080408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70436-1",
            "uniprot_ac": "P70436",
            "uniprot_id": "DLX4_MOUSE",
            "refseq_ac": "NP_031893",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein DLX-4",
                    "type": "recommended"
                },
                {
                    "name": "DII D",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein DLX-7",
                    "type": "synonym"
                },
                {
                    "name": "distal-less homeo box 7",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-4",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dlx4",
                    "type": "recommended"
                },
                {
                    "name": "Dlx-4",
                    "type": "synonym"
                },
                {
                    "name": "Dlx4",
                    "type": "synonym"
                },
                {
                    "name": "Dlx7",
                    "type": "synonym"
                }
            ],
            "record_id": "P70436-1",
            "evidence": [
                {
                    "id": "0080408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92988-1",
            "uniprot_ac": "Q92988",
            "uniprot_id": "DLX4_HUMAN",
            "refseq_ac": "NP_001925",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein DLX-4",
                    "type": "recommended"
                },
                {
                    "name": "Beta protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein DLX-7",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein DLX-8",
                    "type": "synonym"
                },
                {
                    "name": "beta protein 1",
                    "type": "synonym"
                },
                {
                    "name": "distal-less homeo box 7",
                    "type": "synonym"
                },
                {
                    "name": "distal-less homeo box 9",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-4 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-4",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-7",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DLX4",
                    "type": "recommended"
                },
                {
                    "name": "BP1",
                    "type": "synonym"
                },
                {
                    "name": "DLX4",
                    "type": "synonym"
                },
                {
                    "name": "DLX7",
                    "type": "synonym"
                },
                {
                    "name": "DLX8",
                    "type": "synonym"
                },
                {
                    "name": "DLX9",
                    "type": "synonym"
                },
                {
                    "name": "OFC15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92988-1",
            "evidence": [
                {
                    "id": "616788",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616788"
                },
                {
                    "id": "0080408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AC19-1",
            "uniprot_ac": "D4AC19",
            "uniprot_id": "D4AC19_RAT",
            "refseq_ac": "NP_001100510",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Distal-less homeobox 4",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dlx4",
                    "type": "recommended"
                },
                {
                    "name": "Dlx4",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AC19-1",
            "evidence": [
                {
                    "id": "0080408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15127-1",
            "uniprot_ac": "P15127",
            "uniprot_id": "INSR_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "IR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Insr",
                    "type": "recommended"
                }
            ],
            "record_id": "P15127-1",
            "evidence": [
                {
                    "id": "0080408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20009-1",
            "uniprot_ac": "P20009",
            "uniprot_id": "DLL_DROME",
            "refseq_ac": "NP_523857",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeotic protein distal-less",
                    "type": "recommended"
                },
                {
                    "name": "CG3629-PA",
                    "type": "synonym"
                },
                {
                    "name": "Distal-less, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Distall-less",
                    "type": "synonym"
                },
                {
                    "name": "Dll-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein brista",
                    "type": "synonym"
                },
                {
                    "name": "brista",
                    "type": "synonym"
                },
                {
                    "name": "distal-less",
                    "type": "synonym"
                },
                {
                    "name": "distalless",
                    "type": "synonym"
                },
                {
                    "name": "distallless",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of Arp",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dll",
                    "type": "recommended"
                },
                {
                    "name": "2.7",
                    "type": "synonym"
                },
                {
                    "name": "Art",
                    "type": "synonym"
                },
                {
                    "name": "BR",
                    "type": "synonym"
                },
                {
                    "name": "Ba",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LP01770",
                    "type": "synonym"
                },
                {
                    "name": "CG3629",
                    "type": "synonym"
                },
                {
                    "name": "DLL",
                    "type": "synonym"
                },
                {
                    "name": "Dll",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3629",
                    "type": "synonym"
                },
                {
                    "name": "E(Arp)",
                    "type": "synonym"
                },
                {
                    "name": "En(Arp)",
                    "type": "synonym"
                },
                {
                    "name": "dll",
                    "type": "synonym"
                },
                {
                    "name": "l(2)01092",
                    "type": "synonym"
                },
                {
                    "name": "l(2)387",
                    "type": "synonym"
                }
            ],
            "record_id": "P20009-1",
            "evidence": [
                {
                    "id": "0080408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080408"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080408"
}
