{
    "disease_id": "DOID:0050795",
    "recommended_name": {
        "id": "DOID:0050795",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050795",
        "name": "cone dystrophy",
        "description": "A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision."
    },
    "synonyms": [
        {
            "id": "DOID:0050795",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050795",
            "name": "retinal cone dystrophy",
            "description": ""
        }
    ],
    "children": [
        {
            "id": "DOID:0081022",
            "label": "cone dystrophy with supernormal rod responses",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081023",
            "label": "retinal cone dystrophy 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081025",
            "label": "achromatopsia 6",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0081023",
        "DOID:0081025",
        "DOID:0081022",
        "DOID:0050795"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050795",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050795",
            "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": "0050795",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050795"
                }
            ]
        },
        {
            "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": "0050795",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050795"
                }
            ]
        },
        {
            "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": "0050795",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050795"
                }
            ]
        },
        {
            "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": "0050795",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050795"
                }
            ]
        },
        {
            "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": "0050795",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050795"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050795"
}
