{
    "disease_id": "DOID:0110216",
    "recommended_name": {
        "id": "DOID:0110216",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110216",
        "name": "Leber congenital amaurosis 11",
        "description": "A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110216",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110216",
            "name": "LCA11",
            "description": ""
        },
        {
            "id": "MONDO:0013454",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013454",
            "name": "Leber congenital amaurosis 11",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene."
        },
        {
            "id": "MONDO:0013454",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013454",
            "name": "IMPDH1 Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MONDO:0013454",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013454",
            "name": "LCA11",
            "description": ""
        },
        {
            "id": "MONDO:0013454",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013454",
            "name": "Leber congenital amaurosis 11",
            "description": ""
        },
        {
            "id": "MONDO:0013454",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013454",
            "name": "Leber congenital amaurosis caused by mutation in IMPDH1",
            "description": ""
        },
        {
            "id": "MONDO:0013454",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013454",
            "name": "Leber congenital amaurosis type 11",
            "description": ""
        },
        {
            "id": "MONDO:0013454",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013454",
            "name": "amaurosis congenita of Leber, type 11",
            "description": ""
        },
        {
            "id": "MIM:613837",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613837",
            "name": "Leber congenital amaurosis 11",
            "description": "Leber congenital amaurosis 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110216"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110216",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110216",
            "categories": []
        },
        {
            "id": "MONDO:0013454",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013454",
            "categories": []
        },
        {
            "id": "MIM:613837",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613837",
            "categories": []
        }
    ],
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            "uniprot_ac": "Q5RGV1",
            "uniprot_id": "IMDH3_DANRE",
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                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Inosine-5'-monophosphate dehydrogenase 1b",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.205",
                    "type": "synonym"
                },
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                    "name": "IMP (inosine monophosphate) dehydrogenase 1",
                    "type": "synonym"
                },
                {
                    "name": "IMP dehydrogenase 1b",
                    "type": "synonym"
                },
                {
                    "name": "IMPD 1b",
                    "type": "synonym"
                },
                {
                    "name": "IMPDH 1b",
                    "type": "synonym"
                },
                {
                    "name": "inosine 5'-phosphate dehydrogenase 1b",
                    "type": "synonym"
                },
                {
                    "name": "inosine-5'-monophosphate dehydrogenase 1b",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "impdh1b",
                    "type": "recommended"
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                    "name": "D3",
                    "type": "synonym"
                },
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                    "type": "synonym"
                },
                {
                    "name": "IMPDH 1b",
                    "type": "synonym"
                },
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                    "name": "IMPDH1",
                    "type": "synonym"
                },
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                    "type": "synonym"
                },
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                    "name": "id:ibd5035",
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                },
                {
                    "name": "impdh1b",
                    "type": "synonym"
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                {
                    "name": "si:dkey-31f5.7",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa09h11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa99c03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113446",
                    "type": "synonym"
                }
            ],
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                    "id": "0110216",
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            ]
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                }
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                    "name": "inosine 5'-phosphate dehydrogenase 1a",
                    "type": "synonym"
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                    "name": "inosine-5'-monophosphate dehydrogenase 1a",
                    "type": "synonym"
                }
            ],
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                    "name": "impdh1a",
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                },
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                    "name": "IMPDH",
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                    "name": "impdh1a",
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                },
                {
                    "name": "si:dkey-95h12.3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91911",
                    "type": "synonym"
                }
            ],
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                    "id": "0110216",
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                }
            ]
        },
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            "uniprot_ac": "P50096",
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            "glycoprotein": "no",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Inosine-5'-monophosphate dehydrogenase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.205",
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                    "name": "IMP dehydrogenase 1",
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                },
                {
                    "name": "IMPD 1",
                    "type": "synonym"
                },
                {
                    "name": "IMPDH 1",
                    "type": "synonym"
                },
                {
                    "name": "IMPDH-I",
                    "type": "synonym"
                },
                {
                    "name": "inosine 5'-phosphate dehydrogenase 1",
                    "type": "synonym"
                },
                {
                    "name": "inosine-5'-monophosphate dehydrogenase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "inosine-5'-monophosphate dehydrogenase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Impdh1",
                    "type": "recommended"
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                {
                    "name": "B930086D20Rik",
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                {
                    "name": "IMPDH-I",
                    "type": "synonym"
                },
                {
                    "name": "IMPDH",
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                },
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                    "id": "0110216",
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            "uniprot_ac": "P20839",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                }
            ],
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                    "name": "Inosine-5'-monophosphate dehydrogenase 1",
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                    "name": "1.1.1.205",
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                    "name": "IMP (inosine monophosphate) dehydrogenase 1",
                    "type": "synonym"
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                    "name": "IMP dehydrogenase 1",
                    "type": "synonym"
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                    "name": "IMPD 1",
                    "type": "synonym"
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                    "name": "IMPDH 1",
                    "type": "synonym"
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                    "name": "IMPDH-I",
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                    "name": "inosine-5'-monophosphate dehydrogenase 1 isoform a",
                    "type": "synonym"
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                    "name": "inosine-5'-monophosphate dehydrogenase 1",
                    "type": "synonym"
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                    "name": "IMPDH-I",
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                    "name": "IMPDH1",
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                    "name": "IMPD",
                    "type": "synonym"
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                    "name": "LCA11",
                    "type": "synonym"
                },
                {
                    "name": "RP10",
                    "type": "synonym"
                },
                {
                    "name": "sWSS2608",
                    "type": "synonym"
                }
            ],
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                    "id": "613837",
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                {
                    "id": "0110216",
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                    "name": "Inosine-5'-monophosphate dehydrogenase 3",
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                    "name": "IMP dehydrogenase IMD3",
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                    "name": "IMPDH 3",
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                },
                {
                    "name": "l(1)G0436",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0482",
                    "type": "synonym"
                },
                {
                    "name": "ras-l",
                    "type": "synonym"
                },
                {
                    "name": "raspberry/impd",
                    "type": "synonym"
                },
                {
                    "name": "ras",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07152-1",
            "evidence": [
                {
                    "id": "0110216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110216"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110216"
}