{
    "disease_id": "DOID:0111826",
    "recommended_name": {
        "id": "DOID:0111826",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111826",
        "name": "Abruzzo-Erickson syndrome",
        "description": "A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111826",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111826",
            "name": "CHARGE-like syndrome, X-linked",
            "description": ""
        },
        {
            "id": "DOID:0111826",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111826",
            "name": "cleft palate-coloboma-deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010554",
            "name": "Abruzzo-Erickson syndrome",
            "description": "Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis."
        },
        {
            "id": "MONDO:0010554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010554",
            "name": "ABERS",
            "description": ""
        },
        {
            "id": "MONDO:0010554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010554",
            "name": "Abruzzo-Erickson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010554",
            "name": "CHARGE-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010554",
            "name": "cleft palate-coloboma-deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010554",
            "name": "CHARGE like syndrome X-linked",
            "description": ""
        },
        {
            "id": "MIM:302905",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/302905",
            "name": "Abruzzo-Erickson syndrome",
            "description": "Abruzzo-Erickson syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111826"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111826",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111826",
            "categories": []
        },
        {
            "id": "MONDO:0010554",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010554",
            "categories": []
        },
        {
            "id": "MIM:302905",
            "database": "MIM",
            "url": "https://www.omim.org/entry/302905",
            "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": "0111826",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111826"
                }
            ]
        },
        {
            "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": "0111826",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111826"
                }
            ]
        },
        {
            "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": "302905",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/302905"
                },
                {
                    "id": "0111826",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111826"
                }
            ]
        },
        {
            "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": "0111826",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111826"
                }
            ]
        },
        {
            "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": "0111826",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111826"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111826"
}