{
    "disease_id": "DOID:0111249",
    "recommended_name": {
        "id": "DOID:0111249",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111249",
        "name": "uveal coloboma-cleft lip and palate-intellectual disability",
        "description": "A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111249",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111249",
            "name": "Uveal coloboma-cleft lip/palate-mental retardation syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111249",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111249",
            "name": "COB1",
            "description": ""
        },
        {
            "id": "DOID:0111249",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111249",
            "name": "coloboma-microphthalmos syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111249",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111249",
            "name": "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate",
            "description": ""
        },
        {
            "id": "DOID:0111249",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111249",
            "name": "ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "uveal coloboma-cleft lip and palate-intellectual disability",
            "description": "Uveal coloboma-cleft lip and palate-intellectual disability is characterized by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant."
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "uveal coloboma-cleft lip and palate-intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "COB1",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "coloboma, cleft lip/palate and intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "coloboma, cleft lip/palate and mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "coloboma-microphthalmos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "uveal coloboma-cleft lip/palate-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "uveal coloboma-cleft lip/palate-mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MIM:120433",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/120433",
            "name": "Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development",
            "description": "Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111249"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111249",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111249",
            "categories": []
        },
        {
            "id": "MONDO:0007355",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "categories": []
        },
        {
            "id": "MIM:120433",
            "database": "MIM",
            "url": "https://www.omim.org/entry/120433",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1L8J7-1",
            "uniprot_ac": "Q1L8J7",
            "uniprot_id": "YAP1_DANRE",
            "refseq_ac": "NP_001132952",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional coactivator YAP1",
                    "type": "recommended"
                },
                {
                    "name": "Protein yorkie homolog",
                    "type": "synonym"
                },
                {
                    "name": "Yes-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Yes-associated protein YAP65 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein yorkie homolog",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional coactivator YAP1",
                    "type": "synonym"
                },
                {
                    "name": "yap",
                    "type": "synonym"
                },
                {
                    "name": "yes-associated protein YAP65 homolog",
                    "type": "synonym"
                },
                {
                    "name": "zYAP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "yap1",
                    "type": "recommended"
                },
                {
                    "name": "CH211-181P1.5-001",
                    "type": "synonym"
                },
                {
                    "name": "YAP65",
                    "type": "synonym"
                },
                {
                    "name": "cb194",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb194",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-181p1.5",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-3b8.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc18c04",
                    "type": "synonym"
                },
                {
                    "name": "yap1",
                    "type": "synonym"
                },
                {
                    "name": "zYAP",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158380",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L8J7-1",
            "evidence": [
                {
                    "id": "0111249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46938-1",
            "uniprot_ac": "P46938",
            "uniprot_id": "YAP1_MOUSE",
            "refseq_ac": "NP_001164618",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional coactivator YAP1",
                    "type": "recommended"
                },
                {
                    "name": "65 kDa Yes-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein yorkie homolog",
                    "type": "synonym"
                },
                {
                    "name": "Yes-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Yes-associated protein YAP65 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Yes-associated protein isoform a474",
                    "type": "synonym"
                },
                {
                    "name": "Yes-associated protein isoform a475",
                    "type": "synonym"
                },
                {
                    "name": "Yes-associated protein isoform a476",
                    "type": "synonym"
                },
                {
                    "name": "Yes-associated protein isoform b309",
                    "type": "synonym"
                },
                {
                    "name": "Yes-associated protein isoform b313",
                    "type": "synonym"
                },
                {
                    "name": "Yes-associated protein isoform b325",
                    "type": "synonym"
                },
                {
                    "name": "protein yorkie homolog",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional coactivator YAP1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional coactivator YAP1",
                    "type": "synonym"
                },
                {
                    "name": "yes-associated protein YAP65 homolog",
                    "type": "synonym"
                },
                {
                    "name": "yes-associated protein, 65 kDa",
                    "type": "synonym"
                },
                {
                    "name": "yorkie homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Yap1",
                    "type": "recommended"
                },
                {
                    "name": "Yap1",
                    "type": "synonym"
                },
                {
                    "name": "Yap65",
                    "type": "synonym"
                },
                {
                    "name": "Yap",
                    "type": "synonym"
                },
                {
                    "name": "Yki",
                    "type": "synonym"
                },
                {
                    "name": "Yorkie",
                    "type": "synonym"
                }
            ],
            "record_id": "P46938-1",
            "evidence": [
                {
                    "id": "0111249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46937-1",
            "uniprot_ac": "P46937",
            "uniprot_id": "YAP1_HUMAN",
            "refseq_ac": "NP_001123617",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional coactivator YAP1",
                    "type": "recommended"
                },
                {
                    "name": "65 kDa Yes-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein yorkie homolog",
                    "type": "synonym"
                },
                {
                    "name": "Yes associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Yes-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Yes-associated protein YAP65 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein yorkie homolog",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional coactivator YAP1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional coactivator YAP1",
                    "type": "synonym"
                },
                {
                    "name": "yes-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "yes-associated protein YAP65 homolog",
                    "type": "synonym"
                },
                {
                    "name": "yorkie homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YAP1",
                    "type": "recommended"
                },
                {
                    "name": "COB1",
                    "type": "synonym"
                },
                {
                    "name": "YAP-1",
                    "type": "synonym"
                },
                {
                    "name": "YAP1",
                    "type": "synonym"
                },
                {
                    "name": "YAP2",
                    "type": "synonym"
                },
                {
                    "name": "YAP65",
                    "type": "synonym"
                },
                {
                    "name": "YAP",
                    "type": "synonym"
                },
                {
                    "name": "YKI",
                    "type": "synonym"
                }
            ],
            "record_id": "P46937-1",
            "evidence": [
                {
                    "id": "120433",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/120433"
                },
                {
                    "id": "0111249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2EJA0-1",
            "uniprot_ac": "Q2EJA0",
            "uniprot_id": "YAP1_RAT",
            "refseq_ac": "NP_001381258",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional coactivator YAP1",
                    "type": "recommended"
                },
                {
                    "name": "65 kDa Yes-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein yorkie homolog",
                    "type": "synonym"
                },
                {
                    "name": "Yes-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Yes-associated protein YAP65 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein yorkie homolog",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional coactivator YAP1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional coactivator YAP1",
                    "type": "synonym"
                },
                {
                    "name": "yes-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "yes-associated protein YAP65 homolog",
                    "type": "synonym"
                },
                {
                    "name": "yorkie homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Yap1",
                    "type": "recommended"
                },
                {
                    "name": "YAP65",
                    "type": "synonym"
                },
                {
                    "name": "Yap1",
                    "type": "synonym"
                },
                {
                    "name": "Yap65",
                    "type": "synonym"
                },
                {
                    "name": "Yap",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2EJA0-1",
            "evidence": [
                {
                    "id": "0111249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q45VV3-1",
            "uniprot_ac": "Q45VV3",
            "uniprot_id": "YAP1_DROME",
            "refseq_ac": "NP_001036568",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional coactivator yorkie",
                    "type": "recommended"
                },
                {
                    "name": "CG4005-PF",
                    "type": "synonym"
                },
                {
                    "name": "Protein yorkie",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional coactivator YAP1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "yki-PF",
                    "type": "synonym"
                },
                {
                    "name": "yorkie, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "yorkie",
                    "type": "synonym"
                },
                {
                    "name": "yorki",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "yki",
                    "type": "recommended"
                },
                {
                    "name": "CG4005",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4005",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4005",
                    "type": "synonym"
                },
                {
                    "name": "Taz",
                    "type": "synonym"
                },
                {
                    "name": "YAP",
                    "type": "synonym"
                },
                {
                    "name": "YKI",
                    "type": "synonym"
                },
                {
                    "name": "Yap/Taz",
                    "type": "synonym"
                },
                {
                    "name": "Yap",
                    "type": "synonym"
                },
                {
                    "name": "Yki",
                    "type": "synonym"
                },
                {
                    "name": "Yorkie",
                    "type": "synonym"
                },
                {
                    "name": "yap",
                    "type": "synonym"
                },
                {
                    "name": "yki",
                    "type": "synonym"
                }
            ],
            "record_id": "Q45VV3-1",
            "evidence": [
                {
                    "id": "0111249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111249"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111249"
}