{
    "disease_id": "DOID:0110330",
    "recommended_name": {
        "id": "DOID:0110330",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110330",
        "name": "Leber congenital amaurosis 13",
        "description": "A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110330",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110330",
            "name": "LCA13",
            "description": ""
        },
        {
            "id": "MONDO:0012990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012990",
            "name": "Leber congenital amaurosis 13",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene."
        },
        {
            "id": "MONDO:0012990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012990",
            "name": "LCA13",
            "description": ""
        },
        {
            "id": "MONDO:0012990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012990",
            "name": "Leber congenital amaurosis 13",
            "description": ""
        },
        {
            "id": "MONDO:0012990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012990",
            "name": "Leber congenital amaurosis caused by mutation in RDH12",
            "description": ""
        },
        {
            "id": "MONDO:0012990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012990",
            "name": "Leber congenital amaurosis type 13",
            "description": ""
        },
        {
            "id": "MONDO:0012990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012990",
            "name": "RDH12 Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MIM:612712",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612712",
            "name": "Retinitis pigmentosa 53",
            "description": "Retinitis pigmentosa 53"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110330"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110330",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110330",
            "categories": []
        },
        {
            "id": "MONDO:0012990",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012990",
            "categories": []
        },
        {
            "id": "MIM:612712",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612712",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N061-1",
            "uniprot_ac": "A0A8M1N061",
            "uniprot_id": "A0A8M1N061_DANRE",
            "refseq_ac": "NP_001002325",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADP-retinol dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.300",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase 12 (all-trans and 9-cis)",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase 12 (all-trans/9-cis/11-cis)",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rdh12",
                    "type": "recommended"
                },
                {
                    "name": "rdh12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj43a10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92430",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N061-1",
            "evidence": [
                {
                    "id": "0110330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BYK4-1",
            "uniprot_ac": "Q8BYK4",
            "uniprot_id": "RDH12_MOUSE",
            "refseq_ac": "NP_001300900",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinol dehydrogenase 12",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.300",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase 12 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rdh12",
                    "type": "recommended"
                },
                {
                    "name": "Rdh12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BYK4-1",
            "evidence": [
                {
                    "id": "0110330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96NR8-1",
            "uniprot_ac": "Q96NR8",
            "uniprot_id": "RDH12_HUMAN",
            "refseq_ac": "NP_689656",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinol dehydrogenase 12",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.300",
                    "type": "synonym"
                },
                {
                    "name": "All-trans and 9-cis retinol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Short chain dehydrogenase/reductase family 7C member 2",
                    "type": "synonym"
                },
                {
                    "name": "all-trans and 9-cis retinol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase 12 (all-trans/9-cis/11-cis)",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase 12, all-trans and 9-cis",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase 12",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 7C member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RDH12",
                    "type": "recommended"
                },
                {
                    "name": "LCA13",
                    "type": "synonym"
                },
                {
                    "name": "RDH12",
                    "type": "synonym"
                },
                {
                    "name": "RP53",
                    "type": "synonym"
                },
                {
                    "name": "SDR7C2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96NR8-1",
            "evidence": [
                {
                    "id": "612712",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612712"
                },
                {
                    "id": "0110330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08651-1",
            "uniprot_ac": "Q08651",
            "uniprot_id": "ENV9_YEAST",
            "refseq_ac": "NP_014889",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable oxidoreductase ENV9",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Env9p",
                    "type": "synonym"
                },
                {
                    "name": "Late endosome and vacuole interface protein 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENV9",
                    "type": "recommended"
                },
                {
                    "name": "ENV9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08651-1",
            "evidence": [
                {
                    "id": "0110330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZEP9-1",
            "uniprot_ac": "D3ZEP9",
            "uniprot_id": "D3ZEP9_RAT",
            "refseq_ac": "NP_001101507",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADP-retinol dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.300",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase 12 (all-trans/9-cis/11-cis)",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase 12 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rdh12",
                    "type": "recommended"
                },
                {
                    "name": "Rdh12",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZEP9-1",
            "evidence": [
                {
                    "id": "0110330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z729-1",
            "uniprot_ac": "A1Z729",
            "uniprot_id": "A1Z729_DROME",
            "refseq_ac": "NP_610310",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADP-retinol dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.300",
                    "type": "synonym"
                },
                {
                    "name": "CG2064-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rdh1-PA",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase 1",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rdh1",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:SD07613",
                    "type": "synonym"
                },
                {
                    "name": "CG2064",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2064",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2064",
                    "type": "synonym"
                },
                {
                    "name": "RDH",
                    "type": "synonym"
                },
                {
                    "name": "Rdh1",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z729-1",
            "evidence": [
                {
                    "id": "0110330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W404-1",
            "uniprot_ac": "Q9W404",
            "uniprot_id": "Q9W404_DROME",
            "refseq_ac": "NP_001259270",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3842-PC",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG3842",
                    "type": "recommended"
                },
                {
                    "name": "CG3842",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3842",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3842",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.959",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W404-1",
            "evidence": [
                {
                    "id": "0110330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KFB3-1",
            "uniprot_ac": "A0A0B4KFB3",
            "uniprot_id": "A0A0B4KFB3_DROME",
            "refseq_ac": "NP_001260785",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADP-retinol dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.300",
                    "type": "synonym"
                },
                {
                    "name": "CG30495-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG30495",
                    "type": "recommended"
                },
                {
                    "name": "CG17986",
                    "type": "synonym"
                },
                {
                    "name": "CG30495",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30495",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG30495",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KFB3-1",
            "evidence": [
                {
                    "id": "0110330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110330"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110330"
}