{
    "disease_id": "DOID:0110189",
    "recommended_name": {
        "id": "DOID:0110189",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110189",
        "name": "Leber congenital amaurosis 15",
        "description": "A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110189",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110189",
            "name": "LCA15",
            "description": ""
        },
        {
            "id": "MONDO:0013457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013457",
            "name": "Leber congenital amaurosis 15",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene."
        },
        {
            "id": "MONDO:0013457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013457",
            "name": "LCA15",
            "description": ""
        },
        {
            "id": "MONDO:0013457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013457",
            "name": "Leber congenital amaurosis 15",
            "description": ""
        },
        {
            "id": "MONDO:0013457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013457",
            "name": "Leber congenital amaurosis caused by mutation in TULP1",
            "description": ""
        },
        {
            "id": "MONDO:0013457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013457",
            "name": "Leber congenital amaurosis type 15",
            "description": ""
        },
        {
            "id": "MONDO:0013457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013457",
            "name": "TULP1 Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MIM:613843",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613843",
            "name": "Leber congenital amaurosis 15",
            "description": "Leber congenital amaurosis 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110189"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110189",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110189",
            "categories": []
        },
        {
            "id": "MONDO:0013457",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013457",
            "categories": []
        },
        {
            "id": "MIM:613843",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613843",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z273-1",
            "uniprot_ac": "Q9Z273",
            "uniprot_id": "TULP1_MOUSE",
            "refseq_ac": "NP_067453",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubby-related protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Tubby-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tubby like protein 1 like",
                    "type": "synonym"
                },
                {
                    "name": "tubby-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tubby-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tulp1",
                    "type": "recommended"
                },
                {
                    "name": "Tulp1l",
                    "type": "synonym"
                },
                {
                    "name": "Tulp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z273-1",
            "evidence": [
                {
                    "id": "0110189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00294-1",
            "uniprot_ac": "O00294",
            "uniprot_id": "TULP1_HUMAN",
            "refseq_ac": "NP_001276324",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubby-related protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Tubby-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tubby like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tubby-related protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tubby-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TULP1",
                    "type": "recommended"
                },
                {
                    "name": "LCA15",
                    "type": "synonym"
                },
                {
                    "name": "RP14",
                    "type": "synonym"
                },
                {
                    "name": "TUBL1",
                    "type": "synonym"
                },
                {
                    "name": "TULP1",
                    "type": "synonym"
                }
            ],
            "record_id": "O00294-1",
            "evidence": [
                {
                    "id": "613843",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613843"
                },
                {
                    "id": "0110189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A6Z0-1",
            "uniprot_ac": "A0A8I6A6Z0",
            "uniprot_id": "A0A8I6A6Z0_RAT",
            "refseq_ac": "NP_001401996",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubby-like protein",
                    "type": "recommended"
                },
                {
                    "name": "tubby like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tubby-related protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tubby-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tulp1",
                    "type": "recommended"
                },
                {
                    "name": "Tulp1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A6Z0-1",
            "evidence": [
                {
                    "id": "0110189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86PC9-1",
            "uniprot_ac": "Q86PC9",
            "uniprot_id": "TULP_DROME",
            "refseq_ac": "NP_611549",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein king tubby",
                    "type": "recommended"
                },
                {
                    "name": "CG9398-PC",
                    "type": "synonym"
                },
                {
                    "name": "Tubby-like",
                    "type": "synonym"
                },
                {
                    "name": "dTULP",
                    "type": "synonym"
                },
                {
                    "name": "king tubby, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "king tubby",
                    "type": "synonym"
                },
                {
                    "name": "king-tubby",
                    "type": "synonym"
                },
                {
                    "name": "ktub-PC",
                    "type": "synonym"
                },
                {
                    "name": "tubby-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ktub",
                    "type": "recommended"
                },
                {
                    "name": "87D3S",
                    "type": "synonym"
                },
                {
                    "name": "CG9398",
                    "type": "synonym"
                },
                {
                    "name": "D-tulp",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9398",
                    "type": "synonym"
                },
                {
                    "name": "Dtulp",
                    "type": "synonym"
                },
                {
                    "name": "ESTS:87D3S",
                    "type": "synonym"
                },
                {
                    "name": "King-Tubby",
                    "type": "synonym"
                },
                {
                    "name": "King-tubby",
                    "type": "synonym"
                },
                {
                    "name": "TULP",
                    "type": "synonym"
                },
                {
                    "name": "Tulp",
                    "type": "synonym"
                },
                {
                    "name": "dTULP",
                    "type": "synonym"
                },
                {
                    "name": "dTulp",
                    "type": "synonym"
                },
                {
                    "name": "king-tubby",
                    "type": "synonym"
                },
                {
                    "name": "ktub",
                    "type": "synonym"
                },
                {
                    "name": "tulp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86PC9-1",
            "evidence": [
                {
                    "id": "0110189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110189"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110189"
}