{
    "disease_id": "DOID:0110215",
    "recommended_name": {
        "id": "DOID:0110215",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110215",
        "name": "Leber congenital amaurosis 5",
        "description": "A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110215",
            "name": "LCA5",
            "description": ""
        },
        {
            "id": "MONDO:0011473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011473",
            "name": "Leber congenital amaurosis 5",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene."
        },
        {
            "id": "MONDO:0011473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011473",
            "name": "LCA5",
            "description": ""
        },
        {
            "id": "MONDO:0011473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011473",
            "name": "LCA5 Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MONDO:0011473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011473",
            "name": "Leber congenital amaurosis 5",
            "description": ""
        },
        {
            "id": "MONDO:0011473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011473",
            "name": "Leber congenital amaurosis caused by mutation in LCA5",
            "description": ""
        },
        {
            "id": "MONDO:0011473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011473",
            "name": "Leber congenital amaurosis type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011473",
            "name": "amaurosis congenita of Leber, type 5",
            "description": ""
        },
        {
            "id": "MIM:604537",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604537",
            "name": "Leber congenital amaurosis 5",
            "description": "Leber congenital amaurosis 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110215"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110215",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110215",
            "categories": []
        },
        {
            "id": "MONDO:0011473",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011473",
            "categories": []
        },
        {
            "id": "MIM:604537",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604537",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QG33-1",
            "uniprot_ac": "E9QG33",
            "uniprot_id": "LCA5_DANRE",
            "refseq_ac": "XP_009295284",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lebercilin",
                    "type": "recommended"
                },
                {
                    "name": "lebercilin isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lca5",
                    "type": "recommended"
                },
                {
                    "name": "lca5",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QG33-1",
            "evidence": [
                {
                    "id": "0110215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80ST9-1",
            "uniprot_ac": "Q80ST9",
            "uniprot_id": "LCA5_MOUSE",
            "refseq_ac": "NP_081724",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lebercilin",
                    "type": "recommended"
                },
                {
                    "name": "Leber congenital amaurosis 5 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "leber congenital amaurosis 5 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "lebercilin isoform b",
                    "type": "synonym"
                },
                {
                    "name": "lebercilin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lca5",
                    "type": "recommended"
                },
                {
                    "name": "4930431B11Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730406O13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lca5",
                    "type": "synonym"
                },
                {
                    "name": "ORF64",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80ST9-1",
            "evidence": [
                {
                    "id": "0110215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86VQ0-1",
            "uniprot_ac": "Q86VQ0",
            "uniprot_id": "LCA5_HUMAN",
            "refseq_ac": "NP_001116241",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lebercilin",
                    "type": "recommended"
                },
                {
                    "name": "LCA5, lebercilin",
                    "type": "synonym"
                },
                {
                    "name": "Leber congenital amaurosis 5 protein",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "leber congenital amaurosis 5 protein",
                    "type": "synonym"
                },
                {
                    "name": "lebercilin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LCA5",
                    "type": "recommended"
                },
                {
                    "name": "C6orf152",
                    "type": "synonym"
                },
                {
                    "name": "LCA5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86VQ0-1",
            "evidence": [
                {
                    "id": "604537",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604537"
                },
                {
                    "id": "0110215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U2Y9-1",
            "uniprot_ac": "Q5U2Y9",
            "uniprot_id": "LCA5_RAT",
            "refseq_ac": "NP_001380846",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lebercilin",
                    "type": "recommended"
                },
                {
                    "name": "LCA5, lebercilin",
                    "type": "synonym"
                },
                {
                    "name": "Leber congenital amaurosis 5 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "leber congenital amaurosis 5 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "lebercilin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lca5",
                    "type": "recommended"
                },
                {
                    "name": "Lca5",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308555",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U2Y9-1",
            "evidence": [
                {
                    "id": "0110215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVD0-1",
            "uniprot_ac": "Q9VVD0",
            "uniprot_id": "Q9VVD0_DROME",
            "refseq_ac": "NP_648946",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lebercilin domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG6652-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG6652",
                    "type": "recommended"
                },
                {
                    "name": "CG6652",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6652",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6652",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVD0-1",
            "evidence": [
                {
                    "id": "0110215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110215"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110215"
}