{
    "disease_id": "DOID:0110188",
    "recommended_name": {
        "id": "DOID:0110188",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110188",
        "name": "Leber congenital amaurosis 14",
        "description": "A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31."
    },
    "synonyms": [
        {
            "id": "DOID:0110188",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110188",
            "name": "LCA14",
            "description": ""
        },
        {
            "id": "MONDO:0013231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013231",
            "name": "Leber congenital amaurosis 14",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene."
        },
        {
            "id": "MONDO:0013231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013231",
            "name": "LCA14",
            "description": ""
        },
        {
            "id": "MONDO:0013231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013231",
            "name": "LRAT Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MONDO:0013231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013231",
            "name": "Leber congenital amaurosis 14",
            "description": ""
        },
        {
            "id": "MONDO:0013231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013231",
            "name": "Leber congenital amaurosis caused by mutation in LRAT",
            "description": ""
        },
        {
            "id": "MONDO:0013231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013231",
            "name": "Leber congenital amaurosis type 14",
            "description": ""
        },
        {
            "id": "MONDO:0013231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013231",
            "name": "retinal dystrophy, early-onset severe",
            "description": ""
        },
        {
            "id": "MIM:613341",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613341",
            "name": "Leber congenital amaurosis 14",
            "description": "Leber congenital amaurosis 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110188"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110188",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110188",
            "categories": []
        },
        {
            "id": "MONDO:0013231",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013231",
            "categories": []
        },
        {
            "id": "MIM:613341",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613341",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q7T8-1",
            "uniprot_ac": "F1Q7T8",
            "uniprot_id": "F1Q7T8_DANRE",
            "refseq_ac": "NP_001191060",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.3.1.135",
                    "type": "synonym"
                },
                {
                    "name": "Lecithin retinol acyltransferase a",
                    "type": "synonym"
                },
                {
                    "name": "lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "lecithin retinol acyltransferase a (phosphatidylcholine--retinol O-acyltransferase a)",
                    "type": "synonym"
                },
                {
                    "name": "lecithin retinol acyltransferase a (phosphatidylcholine-retinol O-acyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "lecithin retinol acyltransferase a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lrata",
                    "type": "recommended"
                },
                {
                    "name": "lrata",
                    "type": "synonym"
                },
                {
                    "name": "lrat",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q7T8-1",
            "evidence": [
                {
                    "id": "0110188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110188"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IX64-1",
            "uniprot_ac": "A0A0R4IX64",
            "uniprot_id": "A0A0R4IX64_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein lratb.1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lratb.1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0R4IX64-1",
            "evidence": [
                {
                    "id": "0110188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110188"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JI60-1",
            "uniprot_ac": "Q9JI60",
            "uniprot_id": "LRAT_MOUSE",
            "refseq_ac": "NP_076113",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lecithin retinol acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.135",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylcholine--retinol O-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylcholine-retinol-O-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "lecithin retinol acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylcholine--retinol O-acyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrat",
                    "type": "recommended"
                },
                {
                    "name": "1300010A18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lrat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JI60-1",
            "evidence": [
                {
                    "id": "0110188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110188"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95237-1",
            "uniprot_ac": "O95237",
            "uniprot_id": "LRAT_HUMAN",
            "refseq_ac": "NP_001288574",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lecithin retinol acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.135",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylcholine--retinol O-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "lecithin retinol acyltransferase precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRAT",
                    "type": "recommended"
                },
                {
                    "name": "LCA14",
                    "type": "synonym"
                },
                {
                    "name": "LRAT",
                    "type": "synonym"
                }
            ],
            "record_id": "O95237-1",
            "evidence": [
                {
                    "id": "613341",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613341"
                },
                {
                    "id": "0110188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110188"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JI61-1",
            "uniprot_ac": "Q9JI61",
            "uniprot_id": "LRAT_RAT",
            "refseq_ac": "NP_071616",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lecithin retinol acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.135",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylcholine--retinol O-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "lecithin retinol acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylcholine--retinol O-acyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrat",
                    "type": "recommended"
                },
                {
                    "name": "Lrat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JI61-1",
            "evidence": [
                {
                    "id": "0110188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110188"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110188"
}