{
    "disease_id": "DOID:0110005",
    "recommended_name": {
        "id": "DOID:0110005",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110005",
        "name": "Leber congenital amaurosis 9",
        "description": "A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0110005",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110005",
            "name": "LCA9",
            "description": ""
        },
        {
            "id": "MONDO:0012056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012056",
            "name": "Leber congenital amaurosis 9",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene."
        },
        {
            "id": "MONDO:0012056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012056",
            "name": "LCA9",
            "description": ""
        },
        {
            "id": "MONDO:0012056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012056",
            "name": "Leber congenital amaurosis 9",
            "description": ""
        },
        {
            "id": "MONDO:0012056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012056",
            "name": "Leber congenital amaurosis caused by mutation in NMNAT1",
            "description": ""
        },
        {
            "id": "MONDO:0012056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012056",
            "name": "Leber congenital amaurosis type 9",
            "description": ""
        },
        {
            "id": "MONDO:0012056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012056",
            "name": "NMNAT1 Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MONDO:0012056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012056",
            "name": "amaurosis congenita of Leber, type 9",
            "description": ""
        },
        {
            "id": "MIM:608553",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608553",
            "name": "Leber congenital amaurosis 9",
            "description": "Leber congenital amaurosis 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110005"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110005",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110005",
            "categories": []
        },
        {
            "id": "MONDO:0012056",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012056",
            "categories": []
        },
        {
            "id": "MIM:608553",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608553",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QH56-1",
            "uniprot_ac": "E9QH56",
            "uniprot_id": "E9QH56_DANRE",
            "refseq_ac": "NP_001315257",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nicotinamide-nucleotide adenylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.18",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.1",
                    "type": "synonym"
                },
                {
                    "name": "nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nmnat1",
                    "type": "recommended"
                },
                {
                    "name": "id:ibd5068",
                    "type": "synonym"
                },
                {
                    "name": "im:7144541",
                    "type": "synonym"
                },
                {
                    "name": "nmnat1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110243",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QH56-1",
            "evidence": [
                {
                    "id": "0110005",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EPA7-1",
            "uniprot_ac": "Q9EPA7",
            "uniprot_id": "NMNA1_MOUSE",
            "refseq_ac": "NP_597679",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.18",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.1",
                    "type": "synonym"
                },
                {
                    "name": "NMN adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "NMN/NaMN adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "NaMN adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Nicotinamide mononucleotide adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Nicotinate-nucleotide adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "naMN adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "nicotinamide mononucleotide adenylyl transferase",
                    "type": "synonym"
                },
                {
                    "name": "nicotinamide mononucleotide adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "nicotinamide/nicotinate mononucleotide adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "nicotinate-nucleotide adenylyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nmnat1",
                    "type": "recommended"
                },
                {
                    "name": "2610529L11Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730441G13Rik",
                    "type": "synonym"
                },
                {
                    "name": "D4Cole1e",
                    "type": "synonym"
                },
                {
                    "name": "Nmnat1",
                    "type": "synonym"
                },
                {
                    "name": "Nmnat",
                    "type": "synonym"
                },
                {
                    "name": "nmnat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EPA7-1",
            "evidence": [
                {
                    "id": "0110005",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HAN9-1",
            "uniprot_ac": "Q9HAN9",
            "uniprot_id": "NMNA1_HUMAN",
            "refseq_ac": "NP_001284707",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.18",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.1",
                    "type": "synonym"
                },
                {
                    "name": "NMN adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "NMN/NaMN adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "NaMN adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Nicotinamide-nucleotide adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Nicotinate-nucleotide adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "nicotinamide mononucleotide adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "nicotinate-nucleotide adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "pyridine nucleotide adenylyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NMNAT1",
                    "type": "recommended"
                },
                {
                    "name": "LCA9",
                    "type": "synonym"
                },
                {
                    "name": "NMNAT1",
                    "type": "synonym"
                },
                {
                    "name": "NMNAT",
                    "type": "synonym"
                },
                {
                    "name": "PNAT1",
                    "type": "synonym"
                },
                {
                    "name": "SHILCA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HAN9-1",
            "evidence": [
                {
                    "id": "608553",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608553"
                },
                {
                    "id": "0110005",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06178-1",
            "uniprot_ac": "Q06178",
            "uniprot_id": "NMA1_YEAST",
            "refseq_ac": "NP_013432",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.18",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.1",
                    "type": "synonym"
                },
                {
                    "name": "NAD(+) diphosphorylase 1",
                    "type": "synonym"
                },
                {
                    "name": "NAD(+) pyrophosphorylase 1",
                    "type": "synonym"
                },
                {
                    "name": "NMN adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "NMN/NaMN adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "NMNAT 1",
                    "type": "synonym"
                },
                {
                    "name": "NaMN adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "NaMNAT 1",
                    "type": "synonym"
                },
                {
                    "name": "Nicotinamide-nucleotide adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Nicotinate-nucleotide adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "nicotinamide-nucleotide adenylyltransferase NMA1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NMA1",
                    "type": "recommended"
                },
                {
                    "name": "L8543.16",
                    "type": "synonym"
                },
                {
                    "name": "NMA1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06178-1",
            "evidence": [
                {
                    "id": "0110005",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53204-1",
            "uniprot_ac": "P53204",
            "uniprot_id": "NMA2_YEAST",
            "refseq_ac": "NP_011524",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.18",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.1",
                    "type": "synonym"
                },
                {
                    "name": "NAD(+) diphosphorylase 2",
                    "type": "synonym"
                },
                {
                    "name": "NAD(+) pyrophosphorylase 2",
                    "type": "synonym"
                },
                {
                    "name": "NMN adenylyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "NMN/NaMN adenylyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "NMNAT 2",
                    "type": "synonym"
                },
                {
                    "name": "NaMN adenylyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "NaMNAT 2",
                    "type": "synonym"
                },
                {
                    "name": "Nicotinamide-nucleotide adenylyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "Nicotinate-nucleotide adenylyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "nicotinamide-nucleotide adenylyltransferase NMA2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NMA2",
                    "type": "recommended"
                },
                {
                    "name": "NMA2",
                    "type": "synonym"
                }
            ],
            "record_id": "P53204-1",
            "evidence": [
                {
                    "id": "0110005",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VC03-1",
            "uniprot_ac": "Q9VC03",
            "uniprot_id": "NMNA_DROME",
            "refseq_ac": "NP_001262942",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nicotinamide-nucleotide adenylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.18",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.1",
                    "type": "synonym"
                },
                {
                    "name": "CG13645-PC",
                    "type": "synonym"
                },
                {
                    "name": "Nicotinamide mononucleotide adenylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Nmnat-PC",
                    "type": "synonym"
                },
                {
                    "name": "adenylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dNmnat",
                    "type": "synonym"
                },
                {
                    "name": "nicotinamide mononucleotide adenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "nicotinamide mononucleotide adenylyl transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "nicotinamide mononucleotide adenylyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "nicotinamide mononucleotide adenylyltransferase, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "nicotinamide mononucleotide adenylytransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nmnat",
                    "type": "recommended"
                },
                {
                    "name": "3R4",
                    "type": "synonym"
                },
                {
                    "name": "AAL90149",
                    "type": "synonym"
                },
                {
                    "name": "CG13645",
                    "type": "synonym"
                },
                {
                    "name": "DmNMNAT",
                    "type": "synonym"
                },
                {
                    "name": "DmNmnat",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13645",
                    "type": "synonym"
                },
                {
                    "name": "NMNAT",
                    "type": "synonym"
                },
                {
                    "name": "Nmnat1",
                    "type": "synonym"
                },
                {
                    "name": "NmnatB",
                    "type": "synonym"
                },
                {
                    "name": "Nmnat",
                    "type": "synonym"
                },
                {
                    "name": "dNmnat",
                    "type": "synonym"
                },
                {
                    "name": "dnmnat",
                    "type": "synonym"
                },
                {
                    "name": "nmnat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VC03-1",
            "evidence": [
                {
                    "id": "0110005",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110005"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110005"
}