{
    "disease_id": "DOID:0110329",
    "recommended_name": {
        "id": "DOID:0110329",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110329",
        "name": "Leber congenital amaurosis 6",
        "description": "A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11."
    },
    "synonyms": [
        {
            "id": "DOID:0110329",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110329",
            "name": "LCA6",
            "description": ""
        },
        {
            "id": "MONDO:0013446",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013446",
            "name": "Leber congenital amaurosis 6",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene."
        },
        {
            "id": "MONDO:0013446",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013446",
            "name": "LCA6",
            "description": ""
        },
        {
            "id": "MONDO:0013446",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013446",
            "name": "Leber congenital amaurosis 6",
            "description": ""
        },
        {
            "id": "MONDO:0013446",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013446",
            "name": "Leber congenital amaurosis caused by mutation in RPGRIP1",
            "description": ""
        },
        {
            "id": "MONDO:0013446",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013446",
            "name": "Leber congenital amaurosis type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013446",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013446",
            "name": "RPGRIP1 Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MIM:613826",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613826",
            "name": "Leber congenital amaurosis 6",
            "description": "Leber congenital amaurosis 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110329"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110329",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110329",
            "categories": []
        },
        {
            "id": "MONDO:0013446",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013446",
            "categories": []
        },
        {
            "id": "MIM:613826",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613826",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58ITH0-1",
            "uniprot_ac": "A0AC58ITH0",
            "uniprot_id": "A0AC58ITH0_DANRE",
            "refseq_ac": "XP_073797520",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein fantom isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "protein fantom isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rpgrip1",
                    "type": "recommended"
                },
                {
                    "name": "rpgrip1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58ITH0-1",
            "evidence": [
                {
                    "id": "0110329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EPQ2-1",
            "uniprot_ac": "Q9EPQ2",
            "uniprot_id": "RPGR1_MOUSE",
            "refseq_ac": "NP_001161987",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "X-linked retinitis pigmentosa GTPase regulator-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "RPGR-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "X-linked retinitis pigmentosa GTPase regulator-interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpgrip1",
                    "type": "recommended"
                },
                {
                    "name": "0610005A07Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930401L23Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930505G06Rik",
                    "type": "synonym"
                },
                {
                    "name": "A930002K18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rpgrip1",
                    "type": "synonym"
                },
                {
                    "name": "nmf247",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EPQ2-1",
            "evidence": [
                {
                    "id": "0110329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96KN7-1",
            "uniprot_ac": "Q96KN7",
            "uniprot_id": "RPGR1_HUMAN",
            "refseq_ac": "NP_065099",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "X-linked retinitis pigmentosa GTPase regulator-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "RPGR-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "X-linked retinitis pigmentosa GTPase regulator-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa GTPase regulator interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPGRIP1",
                    "type": "recommended"
                },
                {
                    "name": "CORD13",
                    "type": "synonym"
                },
                {
                    "name": "LCA6",
                    "type": "synonym"
                },
                {
                    "name": "RGI1",
                    "type": "synonym"
                },
                {
                    "name": "RGRIP",
                    "type": "synonym"
                },
                {
                    "name": "RPGRIP1d",
                    "type": "synonym"
                },
                {
                    "name": "RPGRIP1",
                    "type": "synonym"
                },
                {
                    "name": "RPGRIP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96KN7-1",
            "evidence": [
                {
                    "id": "613826",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613826"
                },
                {
                    "id": "0110329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LJ71-1",
            "uniprot_ac": "A0ABK0LJ71",
            "uniprot_id": "A0ABK0LJ71_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RPGR interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpgrip1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LJ71-1",
            "evidence": [
                {
                    "id": "0110329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110329"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110329"
}