{
    "disease_id": "DOID:0081169",
    "recommended_name": {
        "id": "DOID:0081169",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081169",
        "name": "Leber congenital amaurosis 19",
        "description": "A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16."
    },
    "synonyms": [
        {
            "id": "MONDO:0032794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032794",
            "name": "Leber congenital amaurosis 19",
            "description": ""
        },
        {
            "id": "MONDO:0032794",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032794",
            "name": "LCA19",
            "description": ""
        },
        {
            "id": "MIM:618513",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618513",
            "name": "Leber congenital amaurosis 19",
            "description": "Leber congenital amaurosis 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081169"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081169",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081169",
            "categories": []
        },
        {
            "id": "MONDO:0032794",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032794",
            "categories": []
        },
        {
            "id": "MIM:618513",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618513",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QG68-1",
            "uniprot_ac": "E9QG68",
            "uniprot_id": "UBP45_DANRE",
            "refseq_ac": "NP_001410895",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase 45",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin specific peptidase 45",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 45",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "usp45",
                    "type": "recommended"
                },
                {
                    "name": "usp45",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QG68-1",
            "evidence": [
                {
                    "id": "0081169",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081169"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K387-1",
            "uniprot_ac": "Q8K387",
            "uniprot_id": "UBP45_MOUSE",
            "refseq_ac": "NP_001277354",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase 45",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme 45",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase 45",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease 45",
                    "type": "synonym"
                },
                {
                    "name": "deubiquitinating enzyme 45",
                    "type": "synonym"
                },
                {
                    "name": "granule cell antiserum positive 7",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 45 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 45",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin specific protease 45",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase 45",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thiolesterase 45",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific-processing protease 45",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Usp45",
                    "type": "recommended"
                },
                {
                    "name": "3110003C05Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930550B20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gcap7",
                    "type": "synonym"
                },
                {
                    "name": "Usp45",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K387-1",
            "evidence": [
                {
                    "id": "0081169",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081169"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q70EL2-1",
            "uniprot_ac": "Q70EL2",
            "uniprot_id": "UBP45_HUMAN",
            "refseq_ac": "NP_001073950",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase 45",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme 45",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase 45",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease 45",
                    "type": "synonym"
                },
                {
                    "name": "deubiquitinating enzyme 45",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 45 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 45",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin specific protease 45",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase 45",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thiolesterase 45",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific-processing protease 45",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "USP45",
                    "type": "recommended"
                },
                {
                    "name": "LCA19",
                    "type": "synonym"
                },
                {
                    "name": "USP45",
                    "type": "synonym"
                }
            ],
            "record_id": "Q70EL2-1",
            "evidence": [
                {
                    "id": "618513",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618513"
                },
                {
                    "id": "0081169",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081169"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K4S7-1",
            "uniprot_ac": "A0A0G2K4S7",
            "uniprot_id": "A0A0G2K4S7_RAT",
            "refseq_ac": "XP_006238002",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 45 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Usp45",
                    "type": "recommended"
                },
                {
                    "name": "Usp45",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K4S7-1",
            "evidence": [
                {
                    "id": "0081169",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081169"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4C3-1",
            "uniprot_ac": "Q9W4C3",
            "uniprot_id": "UBP64_DROME",
            "refseq_ac": "NP_001284890",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase 16/45",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "CG4165-PF",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin specific protease 16/45",
                    "type": "synonym"
                },
                {
                    "name": "Usp16-45-PF",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin specific protease 16/45, isoform F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Usp16-45",
                    "type": "recommended"
                },
                {
                    "name": "CG4165",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4165",
                    "type": "synonym"
                },
                {
                    "name": "Q9W4C3",
                    "type": "synonym"
                },
                {
                    "name": "USP45",
                    "type": "synonym"
                },
                {
                    "name": "Usp16-45",
                    "type": "synonym"
                },
                {
                    "name": "Usp16",
                    "type": "synonym"
                },
                {
                    "name": "Usp45",
                    "type": "synonym"
                },
                {
                    "name": "usp16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4C3-1",
            "evidence": [
                {
                    "id": "0081169",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081169"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081169"
}