{
    "disease_id": "DOID:0080313",
    "recommended_name": {
        "id": "DOID:0080313",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080313",
        "name": "cleft palate-lateral synechia syndrome",
        "description": "A physical disorder that is characterized by fusion of maxilla and mandible."
    },
    "synonyms": [
        {
            "id": "DOID:0080313",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080313",
            "name": "CPLS syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080313",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080313",
            "name": "syngnathia",
            "description": ""
        },
        {
            "id": "MONDO:0007337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007337",
            "name": "cleft palate-lateral synechia syndrome",
            "description": "Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner."
        },
        {
            "id": "MONDO:0007337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007337",
            "name": "CPLS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007337",
            "name": "cleft palate-lateral synechia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007337",
            "name": "cleft palate lateral synechia syndrome",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080313"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080313",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080313",
            "categories": []
        },
        {
            "id": "MONDO:0007337",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007337",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P21275-1",
            "uniprot_ac": "P21275",
            "uniprot_id": "BMP4_MOUSE",
            "refseq_ac": "NP_001303289",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 4",
                    "type": "recommended"
                },
                {
                    "name": "BMP-2B",
                    "type": "synonym"
                },
                {
                    "name": "BMP-4",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 4 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmp4",
                    "type": "recommended"
                },
                {
                    "name": "Bmp-4",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2b-1",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2b1",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2b",
                    "type": "synonym"
                },
                {
                    "name": "Bmp4",
                    "type": "synonym"
                },
                {
                    "name": "Dvr-4",
                    "type": "synonym"
                }
            ],
            "record_id": "P21275-1",
            "evidence": [
                {
                    "id": "0080313",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080313"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06826-1",
            "uniprot_ac": "Q06826",
            "uniprot_id": "BMP4_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": "Bone morphogenetic protein 4",
                    "type": "recommended"
                },
                {
                    "name": "BMP-2B",
                    "type": "synonym"
                },
                {
                    "name": "BMP-4",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 2B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmp4",
                    "type": "recommended"
                },
                {
                    "name": "Bmp-4",
                    "type": "synonym"
                },
                {
                    "name": "Dvr-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06826-1",
            "evidence": [
                {
                    "id": "0080313",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080313"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07713-1",
            "uniprot_ac": "P07713",
            "uniprot_id": "DECA_DROME",
            "refseq_ac": "NP_477311",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein decapentaplegic",
                    "type": "recommended"
                },
                {
                    "name": "CG9885-PA",
                    "type": "synonym"
                },
                {
                    "name": "Decapentaplegic/Bone morphogenetic protein",
                    "type": "synonym"
                },
                {
                    "name": "Haplo-insufficient",
                    "type": "synonym"
                },
                {
                    "name": "Protein DPP-C",
                    "type": "synonym"
                },
                {
                    "name": "blink",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenic protein",
                    "type": "synonym"
                },
                {
                    "name": "decapentaplegic, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "decapentaplegic",
                    "type": "synonym"
                },
                {
                    "name": "dpp-PA",
                    "type": "synonym"
                },
                {
                    "name": "heldout",
                    "type": "synonym"
                },
                {
                    "name": "shortvein",
                    "type": "synonym"
                },
                {
                    "name": "tegula",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dpp",
                    "type": "recommended"
                },
                {
                    "name": "BMP",
                    "type": "synonym"
                },
                {
                    "name": "Bmp",
                    "type": "synonym"
                },
                {
                    "name": "CG9885",
                    "type": "synonym"
                },
                {
                    "name": "DPP-C",
                    "type": "synonym"
                },
                {
                    "name": "DPP",
                    "type": "synonym"
                },
                {
                    "name": "Dm-DPP",
                    "type": "synonym"
                },
                {
                    "name": "DmDPP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9885",
                    "type": "synonym"
                },
                {
                    "name": "Dpp/TGFbeta",
                    "type": "synonym"
                },
                {
                    "name": "Dpp",
                    "type": "synonym"
                },
                {
                    "name": "Hin-d",
                    "type": "synonym"
                },
                {
                    "name": "M(2)23AB",
                    "type": "synonym"
                },
                {
                    "name": "M(2)LS1",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta",
                    "type": "synonym"
                },
                {
                    "name": "TGF-b",
                    "type": "synonym"
                },
                {
                    "name": "TGFbeta",
                    "type": "synonym"
                },
                {
                    "name": "Tgfbeta",
                    "type": "synonym"
                },
                {
                    "name": "Tg",
                    "type": "synonym"
                },
                {
                    "name": "blk",
                    "type": "synonym"
                },
                {
                    "name": "dpp",
                    "type": "synonym"
                },
                {
                    "name": "ho",
                    "type": "synonym"
                },
                {
                    "name": "l(2)10638",
                    "type": "synonym"
                },
                {
                    "name": "l(2)22Fa",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k17036",
                    "type": "synonym"
                },
                {
                    "name": "shv",
                    "type": "synonym"
                }
            ],
            "record_id": "P07713-1",
            "evidence": [
                {
                    "id": "0080313",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080313"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12111-1",
            "uniprot_ac": "P12111",
            "uniprot_id": "CO6A3_HUMAN",
            "refseq_ac": "NP_004360",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-3(VI) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen VI, alpha-3 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(VI) chain isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(VI) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type VI, alpha 3",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL6A3",
                    "type": "recommended"
                },
                {
                    "name": "BTHLM1C",
                    "type": "synonym"
                },
                {
                    "name": "BTHLM1",
                    "type": "synonym"
                },
                {
                    "name": "COL6A3",
                    "type": "synonym"
                },
                {
                    "name": "DYT27",
                    "type": "synonym"
                },
                {
                    "name": "UCMD1C",
                    "type": "synonym"
                },
                {
                    "name": "UCMD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P12111-1",
            "evidence": [
                {
                    "id": "0080313",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080313"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12644-1",
            "uniprot_ac": "P12644",
            "uniprot_id": "BMP4_HUMAN",
            "refseq_ac": "NP_001193",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 4",
                    "type": "recommended"
                },
                {
                    "name": "BMP-2B",
                    "type": "synonym"
                },
                {
                    "name": "BMP-4",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 4 isoform a preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BMP4",
                    "type": "recommended"
                },
                {
                    "name": "BMP2B1",
                    "type": "synonym"
                },
                {
                    "name": "BMP2B",
                    "type": "synonym"
                },
                {
                    "name": "BMP4",
                    "type": "synonym"
                },
                {
                    "name": "DVR4",
                    "type": "synonym"
                },
                {
                    "name": "MCOPS6",
                    "type": "synonym"
                },
                {
                    "name": "OFC11",
                    "type": "synonym"
                },
                {
                    "name": "ZYME",
                    "type": "synonym"
                }
            ],
            "record_id": "P12644-1",
            "evidence": [
                {
                    "id": "0080313",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080313"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080313"
}
