{
    "disease_id": "DOID:0061232",
    "recommended_name": {
        "id": "DOID:0061232",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061232",
        "name": "enhanced S-cone syndrome 2",
        "description": "A retinal disease that is characterized by an increased number of cones in the retina, primarily those expressing S-cone opsins that has_material_basis_in compound heterozygous and homozygous mutation in the NRL gene on chromosome 14q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0700386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700386",
            "name": "enhanced S-cone syndrome 2",
            "description": "An enhanced S-cone syndrome caused by a variation in the NRL gene."
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061232"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061232",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061232",
            "categories": []
        },
        {
            "id": "MONDO:0700386",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700386",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P54846-1",
            "uniprot_ac": "P54846",
            "uniprot_id": "NRL_MOUSE",
            "refseq_ac": "NP_001129546",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neural retina-specific leucine zipper protein",
                    "type": "recommended"
                },
                {
                    "name": "NRL",
                    "type": "synonym"
                },
                {
                    "name": "neural retina-specific leucine zipper protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "neural retina-specific leucine zipper protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nrl",
                    "type": "recommended"
                },
                {
                    "name": "D14H14S46E",
                    "type": "synonym"
                },
                {
                    "name": "Nrl",
                    "type": "synonym"
                }
            ],
            "record_id": "P54846-1",
            "evidence": [
                {
                    "id": "0061232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54845-1",
            "uniprot_ac": "P54845",
            "uniprot_id": "NRL_HUMAN",
            "refseq_ac": "NP_006168",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neural retina-specific leucine zipper protein",
                    "type": "recommended"
                },
                {
                    "name": "Maf-family bZIP transcription factor NRL",
                    "type": "synonym"
                },
                {
                    "name": "NRL",
                    "type": "synonym"
                },
                {
                    "name": "neural retina-specific leucine zipper protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "neural retinal-specific leucine zipper",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NRL",
                    "type": "recommended"
                },
                {
                    "name": "D14S46E",
                    "type": "synonym"
                },
                {
                    "name": "ESCS2",
                    "type": "synonym"
                },
                {
                    "name": "NRL-MAF",
                    "type": "synonym"
                },
                {
                    "name": "NRL",
                    "type": "synonym"
                },
                {
                    "name": "RP27",
                    "type": "synonym"
                }
            ],
            "record_id": "P54845-1",
            "evidence": [
                {
                    "id": "621371",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621371"
                },
                {
                    "id": "0061232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ACF4-1",
            "uniprot_ac": "D4ACF4",
            "uniprot_id": "D4ACF4_RAT",
            "refseq_ac": "NP_001099506",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neural retina-specific leucine zipper protein",
                    "type": "recommended"
                },
                {
                    "name": "neural retina-specific leucine zipper protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nrl",
                    "type": "recommended"
                },
                {
                    "name": "Nrl",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ACF4-1",
            "evidence": [
                {
                    "id": "0061232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PG80-1",
            "uniprot_ac": "M9PG80",
            "uniprot_id": "M9PG80_DROME",
            "refseq_ac": "NP_001260582",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10034-PC",
                    "type": "synonym"
                },
                {
                    "name": "Traffic jam, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Traffic-Jam",
                    "type": "synonym"
                },
                {
                    "name": "female sterile(2)eo2",
                    "type": "synonym"
                },
                {
                    "name": "tj-PC",
                    "type": "synonym"
                },
                {
                    "name": "traffic jam, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "traffic jam",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tj",
                    "type": "recommended"
                },
                {
                    "name": "CG10034",
                    "type": "synonym"
                },
                {
                    "name": "DM13",
                    "type": "synonym"
                },
                {
                    "name": "Dmaf",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10034",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10034",
                    "type": "synonym"
                },
                {
                    "name": "PL3",
                    "type": "synonym"
                },
                {
                    "name": "TJ",
                    "type": "synonym"
                },
                {
                    "name": "Tj",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)eo-B",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)eo2",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)eoPL3",
                    "type": "synonym"
                },
                {
                    "name": "maf-L",
                    "type": "synonym"
                },
                {
                    "name": "maf1",
                    "type": "synonym"
                },
                {
                    "name": "tj",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PG80-1",
            "evidence": [
                {
                    "id": "0061232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061232"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061232"
}