{
    "disease_id": "DOID:0110332",
    "recommended_name": {
        "id": "DOID:0110332",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110332",
        "name": "Leber congenital amaurosis 4",
        "description": "A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110332",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110332",
            "name": "LCA4",
            "description": ""
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "Leber congenital amaurosis 4",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene."
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "cone-rod dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "AIPL1 Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "LCA4",
            "description": ""
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "Leber congenital amaurosis 4",
            "description": ""
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "Leber congenital amaurosis caused by mutation in AIPL1",
            "description": ""
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "Leber congenital amaurosis type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "name": "amaurosis congenita of Leber, type 4",
            "description": ""
        },
        {
            "id": "MIM:604393",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604393",
            "name": "Leber congenital amaurosis 4",
            "description": "Leber congenital amaurosis 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110332"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110332",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110332",
            "categories": []
        },
        {
            "id": "MONDO:0011458",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011458",
            "categories": []
        },
        {
            "id": "MIM:604393",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604393",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5J3-1",
            "uniprot_ac": "A0ACD6B5J3",
            "uniprot_id": "A0ACD6B5J3_DANRE",
            "refseq_ac": "XP_021322106",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aryl-hydrocarbon-interacting protein-like 1",
                    "type": "recommended"
                },
                {
                    "name": "aryl-hydrocarbon-interacting protein-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "aipl1",
                    "type": "recommended"
                },
                {
                    "name": "aipl1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5J3-1",
            "evidence": [
                {
                    "id": "0110332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q924K1-1",
            "uniprot_ac": "Q924K1",
            "uniprot_id": "AIPL1_MOUSE",
            "refseq_ac": "NP_444475",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aryl-hydrocarbon-interacting protein-like 1",
                    "type": "recommended"
                },
                {
                    "name": "aryl-hydrocarbon-interacting protein-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aipl1",
                    "type": "recommended"
                },
                {
                    "name": "A930007I01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Aipl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924K1-1",
            "evidence": [
                {
                    "id": "0110332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NZN9-1",
            "uniprot_ac": "Q9NZN9",
            "uniprot_id": "AIPL1_HUMAN",
            "refseq_ac": "NP_001028226",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aryl-hydrocarbon-interacting protein-like 1",
                    "type": "recommended"
                },
                {
                    "name": "aryl hydrocarbon receptor interacting protein like 1",
                    "type": "synonym"
                },
                {
                    "name": "aryl-hydrocarbon-interacting protein-like 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AIPL1",
                    "type": "recommended"
                },
                {
                    "name": "AIPL1",
                    "type": "synonym"
                },
                {
                    "name": "AIPL2",
                    "type": "synonym"
                },
                {
                    "name": "LCA4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NZN9-1",
            "evidence": [
                {
                    "id": "604393",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604393"
                },
                {
                    "id": "0110332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JLG9-1",
            "uniprot_ac": "Q9JLG9",
            "uniprot_id": "AIPL1_RAT",
            "refseq_ac": "NP_067601",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aryl-hydrocarbon-interacting protein-like 1",
                    "type": "recommended"
                },
                {
                    "name": "aryl hydrocarbon receptor-interacting protein-like 1",
                    "type": "synonym"
                },
                {
                    "name": "aryl-hydrocarbon-interacting protein-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aipl1",
                    "type": "recommended"
                },
                {
                    "name": "Aipl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JLG9-1",
            "evidence": [
                {
                    "id": "0110332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110332"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A6H2EG45-1",
            "uniprot_ac": "A0A6H2EG45",
            "uniprot_id": "A0A6H2EG45_DROME",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "AIP/AIPL N-terminal FKBP-type PPIase domain-containing protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG1847",
                    "type": "recommended"
                },
                {
                    "name": "CG1847",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1847",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A6H2EG45-1",
            "evidence": [
                {
                    "id": "0110332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110332"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110332"
}