{
    "disease_id": "DOID:0060613",
    "recommended_name": {
        "id": "DOID:0060613",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060613",
        "name": "X-linked cleft palate with or without ankyloglossia",
        "description": "A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21."
    },
    "synonyms": [
        {
            "id": "DOID:0060613",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060613",
            "name": "X-linked cleft palate and ankyloglossia",
            "description": ""
        },
        {
            "id": "MONDO:0010560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010560",
            "name": "cleft palate with or without ankyloglossia, X-linked",
            "description": "X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported."
        },
        {
            "id": "MONDO:0010560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010560",
            "name": "X-linked cleft palate and ankyloglossia",
            "description": ""
        },
        {
            "id": "MONDO:0010560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010560",
            "name": "cleft palate with ankyloglossia",
            "description": ""
        },
        {
            "id": "MONDO:0010560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010560",
            "name": "cleft palate with or without ankyloglossia, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010560",
            "name": "CPX",
            "description": ""
        },
        {
            "id": "MONDO:0010560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010560",
            "name": "X-linked cleft palate",
            "description": ""
        },
        {
            "id": "MONDO:0010560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010560",
            "name": "cleft palate X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010560",
            "name": "cleft palate, X-linked",
            "description": ""
        },
        {
            "id": "MIM:303400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/303400",
            "name": "Cleft palate with or without ankyloglossia, X-linked",
            "description": "Cleft palate with or without ankyloglossia, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060613"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060613",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060613",
            "categories": []
        },
        {
            "id": "MONDO:0010560",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010560",
            "categories": []
        },
        {
            "id": "MIM:303400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/303400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8Q7R4-1",
            "uniprot_ac": "A0A2R8Q7R4",
            "uniprot_id": "A0A2R8Q7R4_DANRE",
            "refseq_ac": "XP_005157203",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX22 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbx22",
                    "type": "recommended"
                },
                {
                    "name": "tbx22",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8Q7R4-1",
            "evidence": [
                {
                    "id": "0060613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060613"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K402-1",
            "uniprot_ac": "Q8K402",
            "uniprot_id": "TBX22_MOUSE",
            "refseq_ac": "NP_001277676",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX22",
                    "type": "recommended"
                },
                {
                    "name": "T-box protein 22",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX22 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbx22",
                    "type": "recommended"
                },
                {
                    "name": "D230020M15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tbx22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K402-1",
            "evidence": [
                {
                    "id": "0060613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060613"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y458-1",
            "uniprot_ac": "Q9Y458",
            "uniprot_id": "TBX22_HUMAN",
            "refseq_ac": "NP_001103348",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX22",
                    "type": "recommended"
                },
                {
                    "name": "T-box 22",
                    "type": "synonym"
                },
                {
                    "name": "T-box protein 22",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX22 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBX22",
                    "type": "recommended"
                },
                {
                    "name": "ABERS",
                    "type": "synonym"
                },
                {
                    "name": "CLPA",
                    "type": "synonym"
                },
                {
                    "name": "CPX",
                    "type": "synonym"
                },
                {
                    "name": "TBOX22",
                    "type": "synonym"
                },
                {
                    "name": "TBX22",
                    "type": "synonym"
                },
                {
                    "name": "TBXX",
                    "type": "synonym"
                },
                {
                    "name": "dJ795G23.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y458-1",
            "evidence": [
                {
                    "id": "303400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/303400"
                },
                {
                    "id": "0060613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060613"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JUM5-1",
            "uniprot_ac": "A0A0G2JUM5",
            "uniprot_id": "A0A0G2JUM5_RAT",
            "refseq_ac": "NP_001421332",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box 22",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor 22",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX22 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbx22",
                    "type": "recommended"
                },
                {
                    "name": "Tbx 22",
                    "type": "synonym"
                },
                {
                    "name": "Tbx22",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JUM5-1",
            "evidence": [
                {
                    "id": "0060613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060613"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W198-1",
            "uniprot_ac": "Q9W198",
            "uniprot_id": "Q9W198_DROME",
            "refseq_ac": "NP_001188998",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "166 complementation group",
                    "type": "synonym"
                },
                {
                    "name": "CG3363-PB",
                    "type": "synonym"
                },
                {
                    "name": "Over compensating males, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Over compensating males, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Over compensating males, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "complementation group A",
                    "type": "synonym"
                },
                {
                    "name": "ocm-PB",
                    "type": "synonym"
                },
                {
                    "name": "over compensating males, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ocm",
                    "type": "recommended"
                },
                {
                    "name": "CG3363",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3363",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3363",
                    "type": "synonym"
                },
                {
                    "name": "Mga",
                    "type": "synonym"
                },
                {
                    "name": "Mod(GMroX1)A",
                    "type": "synonym"
                },
                {
                    "name": "Ocm",
                    "type": "synonym"
                },
                {
                    "name": "ocm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W198-1",
            "evidence": [
                {
                    "id": "0060613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060613"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060613"
}