{
    "disease_id": "DOID:0110080",
    "recommended_name": {
        "id": "DOID:0110080",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110080",
        "name": "Leber congenital amaurosis 12",
        "description": "A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110080",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110080",
            "name": "LCA12",
            "description": ""
        },
        {
            "id": "MONDO:0012525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012525",
            "name": "Leber congenital amaurosis 12",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene."
        },
        {
            "id": "MONDO:0012525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012525",
            "name": "LCA12",
            "description": ""
        },
        {
            "id": "MONDO:0012525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012525",
            "name": "Leber congenital amaurosis 12",
            "description": ""
        },
        {
            "id": "MONDO:0012525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012525",
            "name": "Leber congenital amaurosis caused by mutation in RD3",
            "description": ""
        },
        {
            "id": "MONDO:0012525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012525",
            "name": "Leber congenital amaurosis type 12",
            "description": ""
        },
        {
            "id": "MONDO:0012525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012525",
            "name": "RD3 Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MONDO:0012525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012525",
            "name": "amaurosis congenita of Leber, type 12",
            "description": ""
        },
        {
            "id": "MIM:610612",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610612",
            "name": "Leber congenital amaurosis 12",
            "description": "Leber congenital amaurosis 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110080"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110080",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110080",
            "categories": []
        },
        {
            "id": "MONDO:0012525",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012525",
            "categories": []
        },
        {
            "id": "MIM:610612",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610612",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BRE0-1",
            "uniprot_ac": "Q8BRE0",
            "uniprot_id": "RD3_MOUSE",
            "refseq_ac": "NP_001171371",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein RD3",
                    "type": "recommended"
                },
                {
                    "name": "Retinal degeneration protein 3",
                    "type": "synonym"
                },
                {
                    "name": "protein RD3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein RD3",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rd3",
                    "type": "recommended"
                },
                {
                    "name": "3322402L07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rd3",
                    "type": "synonym"
                },
                {
                    "name": "rd-3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BRE0-1",
            "evidence": [
                {
                    "id": "0110080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z3Z2-1",
            "uniprot_ac": "Q7Z3Z2",
            "uniprot_id": "RD3_HUMAN",
            "refseq_ac": "NP_001158160",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein RD3",
                    "type": "recommended"
                },
                {
                    "name": "Retinal degeneration protein 3",
                    "type": "synonym"
                },
                {
                    "name": "protein RD3",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration 3, GUCY2D regulator",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RD3",
                    "type": "recommended"
                },
                {
                    "name": "C1orf36",
                    "type": "synonym"
                },
                {
                    "name": "LCA12",
                    "type": "synonym"
                },
                {
                    "name": "RD3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z3Z2-1",
            "evidence": [
                {
                    "id": "610612",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610612"
                },
                {
                    "id": "0110080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R688-1",
            "uniprot_ac": "M0R688",
            "uniprot_id": "M0R688_RAT",
            "refseq_ac": "NP_001415826",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RD3 regulator of GUCY2D",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration 3, GUCY2D regulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rd3",
                    "type": "recommended"
                },
                {
                    "name": "LOC684158",
                    "type": "synonym"
                },
                {
                    "name": "Rd3",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R688-1",
            "evidence": [
                {
                    "id": "0110080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110080"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110080"
}