{
    "disease_id": "DOID:0110333",
    "recommended_name": {
        "id": "DOID:0110333",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110333",
        "name": "Leber congenital amaurosis 7",
        "description": "A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110333",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110333",
            "name": "LCA7",
            "description": ""
        },
        {
            "id": "MONDO:0013449",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013449",
            "name": "Leber congenital amaurosis 7",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene."
        },
        {
            "id": "MONDO:0013449",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013449",
            "name": "CRX Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MONDO:0013449",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013449",
            "name": "LCA7",
            "description": ""
        },
        {
            "id": "MONDO:0013449",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013449",
            "name": "Leber congenital amaurosis 7",
            "description": ""
        },
        {
            "id": "MONDO:0013449",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013449",
            "name": "Leber congenital amaurosis caused by mutation in CRX",
            "description": ""
        },
        {
            "id": "MONDO:0013449",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013449",
            "name": "Leber congenital amaurosis type 7",
            "description": ""
        },
        {
            "id": "MIM:613829",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613829",
            "name": "Leber congenital amaurosis 7",
            "description": "Leber congenital amaurosis 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110333"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110333",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110333",
            "categories": []
        },
        {
            "id": "MONDO:0013449",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013449",
            "categories": []
        },
        {
            "id": "MIM:613829",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613829",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8JIZ3-1",
            "uniprot_ac": "Q8JIZ3",
            "uniprot_id": "Q8JIZ3_DANRE",
            "refseq_ac": "NP_694419",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cone-rod homeobox protein",
                    "type": "synonym"
                },
                {
                    "name": "cone-rod homeobox protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "crx",
                    "type": "recommended"
                },
                {
                    "name": "crx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8JIZ3-1",
            "evidence": [
                {
                    "id": "0110333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54751-1",
            "uniprot_ac": "O54751",
            "uniprot_id": "CRX_MOUSE",
            "refseq_ac": "NP_001106801",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cone-rod homeobox protein",
                    "type": "recommended"
                },
                {
                    "name": "cone-rod homeobox containing",
                    "type": "synonym"
                },
                {
                    "name": "cone-rod homeobox protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cone-rod homeobox protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crx",
                    "type": "recommended"
                },
                {
                    "name": "Crx1",
                    "type": "synonym"
                },
                {
                    "name": "Crx",
                    "type": "synonym"
                }
            ],
            "record_id": "O54751-1",
            "evidence": [
                {
                    "id": "0110333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43186-1",
            "uniprot_ac": "O43186",
            "uniprot_id": "CRX_HUMAN",
            "refseq_ac": "NP_000545",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cone-rod homeobox protein",
                    "type": "recommended"
                },
                {
                    "name": "cone-rod homeobox protein",
                    "type": "synonym"
                },
                {
                    "name": "orthodenticle homeobox 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRX",
                    "type": "recommended"
                },
                {
                    "name": "CORD2",
                    "type": "synonym"
                },
                {
                    "name": "CRD",
                    "type": "synonym"
                },
                {
                    "name": "CRX",
                    "type": "synonym"
                },
                {
                    "name": "LCA7",
                    "type": "synonym"
                },
                {
                    "name": "OTX3",
                    "type": "synonym"
                }
            ],
            "record_id": "O43186-1",
            "evidence": [
                {
                    "id": "613829",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613829"
                },
                {
                    "id": "0110333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WTQ9-1",
            "uniprot_ac": "Q9WTQ9",
            "uniprot_id": "Q9WTQ9_RAT",
            "refseq_ac": "NP_068627",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cone-rod homeobox protein",
                    "type": "recommended"
                },
                {
                    "name": "cone-rod homeobox containing",
                    "type": "synonym"
                },
                {
                    "name": "cone-rod homeobox protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crx",
                    "type": "recommended"
                },
                {
                    "name": "Crx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WTQ9-1",
            "evidence": [
                {
                    "id": "0110333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62949-1",
            "uniprot_ac": "Q62949",
            "uniprot_id": "CORT_RAT",
            "refseq_ac": "NP_036967",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cortistatin",
                    "type": "recommended"
                },
                {
                    "name": "Preprocortistatin",
                    "type": "synonym"
                },
                {
                    "name": "cortistatin preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cort",
                    "type": "recommended"
                },
                {
                    "name": "Cort",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62949-1",
            "evidence": [
                {
                    "id": "0110333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22810-1",
            "uniprot_ac": "P22810",
            "uniprot_id": "HMOC_DROME",
            "refseq_ac": "NP_001014727",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeotic protein ocelliless",
                    "type": "recommended"
                },
                {
                    "name": "CG12154-PC",
                    "type": "synonym"
                },
                {
                    "name": "Protein orthodenticle",
                    "type": "synonym"
                },
                {
                    "name": "oc-PC",
                    "type": "synonym"
                },
                {
                    "name": "ocelliless, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "ocelliless",
                    "type": "synonym"
                },
                {
                    "name": "orthodentical",
                    "type": "synonym"
                },
                {
                    "name": "orthodenticle",
                    "type": "synonym"
                },
                {
                    "name": "uvi-insensitive",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "oc",
                    "type": "recommended"
                },
                {
                    "name": "CG12154",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12154",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12154",
                    "type": "synonym"
                },
                {
                    "name": "OC",
                    "type": "synonym"
                },
                {
                    "name": "Oc",
                    "type": "synonym"
                },
                {
                    "name": "Otd",
                    "type": "synonym"
                },
                {
                    "name": "Otx",
                    "type": "synonym"
                },
                {
                    "name": "l(1)7Ff",
                    "type": "synonym"
                },
                {
                    "name": "l(1)8Ac",
                    "type": "synonym"
                },
                {
                    "name": "oc2",
                    "type": "synonym"
                },
                {
                    "name": "oc",
                    "type": "synonym"
                },
                {
                    "name": "orthodenticle",
                    "type": "synonym"
                },
                {
                    "name": "ort",
                    "type": "synonym"
                },
                {
                    "name": "otd",
                    "type": "synonym"
                },
                {
                    "name": "uvi",
                    "type": "synonym"
                }
            ],
            "record_id": "P22810-1",
            "evidence": [
                {
                    "id": "0110333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110333"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110333"
}