{
    "disease_id": "DOID:0111697",
    "recommended_name": {
        "id": "DOID:0111697",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111697",
        "name": "cleft palate, cardiac defects, and intellectual disability",
        "description": "A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14."
    },
    "synonyms": [
        {
            "id": "DOID:0111697",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111697",
            "name": "cleft palate, cardiac defects, and mental retardation",
            "description": ""
        },
        {
            "id": "DOID:0111697",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111697",
            "name": "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies",
            "description": ""
        },
        {
            "id": "DOID:0111697",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111697",
            "name": "CPCMR",
            "description": ""
        },
        {
            "id": "MONDO:0010970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010970",
            "name": "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0010970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010970",
            "name": "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0010970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010970",
            "name": "CPCMR",
            "description": ""
        },
        {
            "id": "MONDO:0010970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010970",
            "name": "cleft palate, CARDIAC defects, and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010970",
            "name": "cleft palate, Cardiac defects, and mental retardation",
            "description": ""
        },
        {
            "id": "MIM:600987",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600987",
            "name": "Cleft palate, cardiac defects, and impaired intellectual development",
            "description": "Cleft palate, cardiac defects, and impaired intellectual development"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111697"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111697",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111697",
            "categories": []
        },
        {
            "id": "MONDO:0010970",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010970",
            "categories": []
        },
        {
            "id": "MIM:600987",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600987",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AK57-1",
            "uniprot_ac": "A0A8M3AK57",
            "uniprot_id": "A0A8M3AK57_DANRE",
            "refseq_ac": "XP_009291615",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Meis2a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Meis2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "meis2a",
                    "type": "recommended"
                },
                {
                    "name": "fa26d08",
                    "type": "synonym"
                },
                {
                    "name": "meis2.2",
                    "type": "synonym"
                },
                {
                    "name": "meis2a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa26d08",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AK57-1",
            "evidence": [
                {
                    "id": "0111697",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111697"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97367-1",
            "uniprot_ac": "P97367",
            "uniprot_id": "MEIS2_MOUSE",
            "refseq_ac": "NP_001129544",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Meis2",
                    "type": "recommended"
                },
                {
                    "name": "Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 2",
                    "type": "synonym"
                },
                {
                    "name": "Meis1-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Meis2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Meis2",
                    "type": "synonym"
                },
                {
                    "name": "meis1-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "myeloid ecotropic viral integration site-related gene 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Meis2",
                    "type": "recommended"
                },
                {
                    "name": "A430109D20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Meis2",
                    "type": "synonym"
                },
                {
                    "name": "Mrg1",
                    "type": "synonym"
                },
                {
                    "name": "Stra10",
                    "type": "synonym"
                }
            ],
            "record_id": "P97367-1",
            "evidence": [
                {
                    "id": "0111697",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111697"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14770-1",
            "uniprot_ac": "O14770",
            "uniprot_id": "MEIS2_HUMAN",
            "refseq_ac": "NP_001207411",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Meis2",
                    "type": "recommended"
                },
                {
                    "name": "Meis homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Meis1, myeloid ecotropic viral integration site 1 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Meis1-related gene 1",
                    "type": "synonym"
                },
                {
                    "name": "Meis1-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TALE homeobox protein Meis2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Meis2 isoform d",
                    "type": "synonym"
                },
                {
                    "name": "meis1-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MEIS2",
                    "type": "recommended"
                },
                {
                    "name": "CPCMR",
                    "type": "synonym"
                },
                {
                    "name": "HsT18361",
                    "type": "synonym"
                },
                {
                    "name": "MEIS2",
                    "type": "synonym"
                },
                {
                    "name": "MRG1",
                    "type": "synonym"
                }
            ],
            "record_id": "O14770-1",
            "evidence": [
                {
                    "id": "600987",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600987"
                },
                {
                    "id": "0111697",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111697"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A2T5-1",
            "uniprot_ac": "D4A2T5",
            "uniprot_id": "D4A2T5_RAT",
            "refseq_ac": "XP_006234809",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Meis homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Meis2 isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Meis2",
                    "type": "recommended"
                },
                {
                    "name": "Meis2",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A2T5-1",
            "evidence": [
                {
                    "id": "0111697",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111697"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O46339-1",
            "uniprot_ac": "O46339",
            "uniprot_id": "HTH_DROME",
            "refseq_ac": "NP_001014613",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein homothorax",
                    "type": "recommended"
                },
                {
                    "name": "CG17117-PE",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein dorsotonals",
                    "type": "synonym"
                },
                {
                    "name": "dorsotonals",
                    "type": "synonym"
                },
                {
                    "name": "gene II",
                    "type": "synonym"
                },
                {
                    "name": "homothorax, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "homothorax",
                    "type": "synonym"
                },
                {
                    "name": "hth-PE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hth",
                    "type": "recommended"
                },
                {
                    "name": "1323/07",
                    "type": "synonym"
                },
                {
                    "name": "1422/04",
                    "type": "synonym"
                },
                {
                    "name": "CG17117",
                    "type": "synonym"
                },
                {
                    "name": "Dm-HTH",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17117",
                    "type": "synonym"
                },
                {
                    "name": "HTH",
                    "type": "synonym"
                },
                {
                    "name": "Hth",
                    "type": "synonym"
                },
                {
                    "name": "MEIS1",
                    "type": "synonym"
                },
                {
                    "name": "Meis1",
                    "type": "synonym"
                },
                {
                    "name": "P53",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-2.13",
                    "type": "synonym"
                },
                {
                    "name": "clone 2.13",
                    "type": "synonym"
                },
                {
                    "name": "dtl",
                    "type": "synonym"
                },
                {
                    "name": "hth1",
                    "type": "synonym"
                },
                {
                    "name": "hth2",
                    "type": "synonym"
                },
                {
                    "name": "hth",
                    "type": "synonym"
                },
                {
                    "name": "l(3)05745",
                    "type": "synonym"
                },
                {
                    "name": "l(3)86Ca",
                    "type": "synonym"
                }
            ],
            "record_id": "O46339-1",
            "evidence": [
                {
                    "id": "0111697",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111697"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111697"
}