{
    "disease_id": "DOID:0050534",
    "recommended_name": {
        "id": "DOID:0050534",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050534",
        "name": "congenital stationary night blindness",
        "description": "A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves."
    },
    "synonyms": [
        {
            "id": "DOID:0050534",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050534",
            "name": "congenital essential nyctalopia",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "congenital stationary night blindness 1A",
            "description": "A congenital stationary night blindness caused by variants in the X-linked NYX gene."
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "CSNB1A",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "NYX congenital stationary night blindness",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "NYX-related congenital stationary night blindness",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "congenital stationary night blindness caused by mutation in NYX",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "congenital stationary night blindness type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "hemeralopia-myopia",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "myopia-night blindness",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "night blindness, congenital stationary (complete), 1A, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "name": "night blindness, congenital stationary, type 1A",
            "description": ""
        },
        {
            "id": "MIM:310500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/310500",
            "name": "Night blindness, congenital stationary, 1A",
            "description": "Night blindness, congenital stationary, 1A"
        }
    ],
    "children": [
        {
            "id": "DOID:0110712",
            "label": "Oguchi disease-1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110713",
            "label": "Oguchi disease-2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110714",
            "label": "congenital stationary night blindness 1G",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110715",
            "label": "congenital stationary night blindness autosomal dominant 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110862",
            "label": "congenital stationary night blindness autosomal dominant 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110863",
            "label": "congenital stationary night blindness autosomal dominant 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110864",
            "label": "congenital stationary night blindness 1F",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110865",
            "label": "congenital stationary night blindness 1B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110866",
            "label": "congenital stationary night blindness 1H",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110867",
            "label": "congenital stationary night blindness 1C",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110868",
            "label": "congenital stationary night blindness 1D",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110869",
            "label": "congenital stationary night blindness 1E",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110870",
            "label": "congenital stationary night blindness 1A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110871",
            "label": "congenital stationary night blindness 2A",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0110713",
        "DOID:0110866",
        "DOID:0050534",
        "DOID:0110864",
        "DOID:0110869",
        "DOID:0110862",
        "DOID:0110715",
        "DOID:0110865",
        "DOID:0110868",
        "DOID:0110867",
        "DOID:0110712",
        "DOID:0110871",
        "DOID:0110870",
        "DOID:0110863",
        "DOID:0110714"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050534",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050534",
            "categories": []
        },
        {
            "id": "MONDO:0010690",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010690",
            "categories": []
        },
        {
            "id": "MIM:310500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/310500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PQW6-1",
            "uniprot_ac": "A0A8M9PQW6",
            "uniprot_id": "A0A8M9PQW6_DANRE",
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            "glycoprotein": "yes",
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                {
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Voltage-dependent L-type calcium channel subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "calcium channel, voltage-dependent, L type, alpha 1F subunit isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cacna1fb",
                    "type": "recommended"
                },
                {
                    "name": "ZfCav1.4",
                    "type": "synonym"
                },
                {
                    "name": "cacna1fb",
                    "type": "synonym"
                },
                {
                    "name": "cacna1f",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050534",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050534"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BCH5-1",
            "uniprot_ac": "A0A8M2BCH5",
            "uniprot_id": "A0A8M2BCH5_DANRE",
            "refseq_ac": "XP_005165318",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate cyclase",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "retinal guanylyl cyclase 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gucy2d",
                    "type": "recommended"
                },
                {
                    "name": "GUCY2d1",
                    "type": "synonym"
                },
                {
                    "name": "RETGC-3",
                    "type": "synonym"
                },
                {
                    "name": "gc3",
                    "type": "synonym"
                },
                {
                    "name": "gucy2d",
                    "type": "synonym"
                }
            ],
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                    "id": "0050534",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M6Z1K6-1",
            "uniprot_ac": "A0A8M6Z1K6",
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            "refseq_ac": "NP_001428456",
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Transient receptor potential cation channel subfamily M member 1a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 1a isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel, subfamily M, member 1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential melastatin 1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trpm1a",
                    "type": "recommended"
                },
                {
                    "name": "TRPM1b",
                    "type": "synonym"
                },
                {
                    "name": "trpm1a",
                    "type": "synonym"
                },
                {
                    "name": "trpm1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158632",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050534",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050534"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JIS7-1",
            "uniprot_ac": "Q9JIS7",
            "uniprot_id": "CAC1F_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent L-type calcium channel subunit alpha-1F",
                    "type": "recommended"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav1.4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna1f",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9JIS7-1",
            "evidence": [
                {
                    "id": "0050534",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050534"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52785-1",
            "uniprot_ac": "P52785",
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            "refseq_ac": "NP_032218",
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            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal guanylyl cyclase 1",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase 2E",
                    "type": "synonym"
                },
                {
                    "name": "Guanylyl cyclase GC-E",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase 2e",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase GC-E",
                    "type": "synonym"
                },
                {
                    "name": "retinal guanylyl cyclase 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "retinal guanylyl cyclase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gucy2e",
                    "type": "recommended"
                },
                {
                    "name": "GC-E",
                    "type": "synonym"
                },
                {
                    "name": "GC1",
                    "type": "synonym"
                },
                {
                    "name": "Guc2e",
                    "type": "synonym"
                },
                {
                    "name": "Gucy2e",
                    "type": "synonym"
                },
                {
                    "name": "ROS-GC1",
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                }
            ],
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                {
                    "id": "0050534",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050534"
                }
            ]
        },
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            "uniprot_ac": "Q8K424",
            "uniprot_id": "TRPV3_MOUSE",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily V member 3",
                    "type": "recommended"
                },
                {
                    "name": "TRP ion channel TRPV3",
                    "type": "synonym"
                },
                {
                    "name": "TrpV3",
                    "type": "synonym"
                },
                {
                    "name": "non-hair",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily V member 3 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpv3",
                    "type": "recommended"
                },
                {
                    "name": "1110036I10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Nh",
                    "type": "synonym"
                },
                {
                    "name": "Trpv3",
                    "type": "synonym"
                },
                {
                    "name": "VRL3",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050534",
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                }
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            "uniprot_ac": "Q2TV84",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Transient receptor potential cation channel subfamily M member 1",
                    "type": "recommended"
                },
                {
                    "name": "LTrpC1",
                    "type": "synonym"
                },
                {
                    "name": "Long transient receptor potential channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Melastatin-1",
                    "type": "synonym"
                },
                {
                    "name": "long transient receptor potential channel 1",
                    "type": "synonym"
                },
                {
                    "name": "melastatin-1",
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                {
                    "name": "transient receptor potential cation channel subfamily M member 1 isoform 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Trpm1",
                    "type": "recommended"
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                {
                    "name": "4732499L03Rik",
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                },
                {
                    "name": "Ltrpc1",
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                },
                {
                    "name": "Mlsn1",
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                },
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                    "name": "Trpm1",
                    "type": "synonym"
                },
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                    "name": "rd15",
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                }
            ],
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                {
                    "id": "0050534",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050534"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P83503-1",
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                {
                    "name": "Mus musculus",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Nyctalopin",
                    "type": "recommended"
                },
                {
                    "name": "no b wave",
                    "type": "synonym"
                },
                {
                    "name": "nyctalopin precursor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Nyx",
                    "type": "recommended"
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                {
                    "name": "CLNP",
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                    "name": "CSNB1",
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                },
                {
                    "name": "CSNB4",
                    "type": "synonym"
                },
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                    "name": "Nyx",
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                },
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                    "name": "nob",
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                }
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                    "id": "0050534",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Nyctalopin",
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                {
                    "name": "leucine-rich repeat protein",
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                {
                    "name": "nyctalopin precursor",
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                }
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                {
                    "name": "NYX",
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                {
                    "name": "CLRP",
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                    "name": "CSNB1A",
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                    "name": "CSNB1",
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                    "name": "CSNB4",
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                    "name": "NBM1",
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                    "name": "NYX",
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                }
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                    "id": "310500",
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                },
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                    "id": "0050534",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050534"
                }
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Calcium-channel protein CCH1",
                    "type": "recommended"
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                {
                    "name": "calcium channel protein CCH1",
                    "type": "synonym"
                }
            ],
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                    "type": "recommended"
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                },
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                    "name": "G8501",
                    "type": "synonym"
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                    "id": "0050534",
                    "database": "AGR",
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                }
            ]
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                {
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            ],
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                {
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                    "name": "TRPM1-203 APA Isoform, Intron 10",
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                {
                    "name": "TRPM1-203 APA Isoform, Intron 3",
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                {
                    "name": "long transient receptor potential channel 1",
                    "type": "synonym"
                },
                {
                    "name": "melastatin-1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential melastatin family",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "TRPM1",
                    "type": "recommended"
                },
                {
                    "name": "CSNB1C",
                    "type": "synonym"
                },
                {
                    "name": "LTRPC1",
                    "type": "synonym"
                },
                {
                    "name": "MLSN1",
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                },
                {
                    "name": "MLSN",
                    "type": "synonym"
                },
                {
                    "name": "TRPM1",
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                }
            ],
            "record_id": "Q7Z4N2-1",
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                {
                    "id": "0050534",
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                }
            ]
        },
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            "uniprot_canonical_ac": "Q8NET8-1",
            "uniprot_ac": "Q8NET8",
            "uniprot_id": "TRPV3_HUMAN",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily V member 3",
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                },
                {
                    "name": "TrpV3",
                    "type": "synonym"
                },
                {
                    "name": "VRL-3",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-like 3",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily V member 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-like 3",
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                {
                    "name": "vanilloid receptor-related osmotically activated channel protein",
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                }
            ],
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                {
                    "name": "FNEPPK2",
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                },
                {
                    "name": "OLMS1",
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                },
                {
                    "name": "OLMS",
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                },
                {
                    "name": "TRPV3",
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                {
                    "name": "VRL3",
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                    "id": "0050534",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02846-1",
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                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Retinal guanylyl cyclase 1",
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                },
                {
                    "name": "4.6.1.2",
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                },
                {
                    "name": "CG-E",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase 2D, retinal",
                    "type": "synonym"
                },
                {
                    "name": "RETGC-1",
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                },
                {
                    "name": "ROS-GC",
                    "type": "synonym"
                },
                {
                    "name": "Rod outer segment membrane guanylate cyclase",
                    "type": "synonym"
                },
                {
                    "name": "central areolar choroidal dystrophy",
                    "type": "synonym"
                },
                {
                    "name": "cone rod dystrophy 6",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase 2D, membrane (retina-specific)",
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                },
                {
                    "name": "retinal guanylate cyclase 1",
                    "type": "synonym"
                },
                {
                    "name": "retinal guanylyl cyclase 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "retinal guanylyl cyclase 1",
                    "type": "synonym"
                },
                {
                    "name": "rod outer segment membrane guanylate cyclase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "GUCY2D",
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                {
                    "name": "CACD1",
                    "type": "synonym"
                },
                {
                    "name": "CACD",
                    "type": "synonym"
                },
                {
                    "name": "CG-E",
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                },
                {
                    "name": "CORD5",
                    "type": "synonym"
                },
                {
                    "name": "CORD6",
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                },
                {
                    "name": "CSNB1I",
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                {
                    "name": "CYGD",
                    "type": "synonym"
                },
                {
                    "name": "GUC1A4",
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                },
                {
                    "name": "GUC2D",
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                },
                {
                    "name": "GUCY2D",
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                },
                {
                    "name": "LCA1",
                    "type": "synonym"
                },
                {
                    "name": "LCA",
                    "type": "synonym"
                },
                {
                    "name": "RCD2",
                    "type": "synonym"
                },
                {
                    "name": "RETGC-1",
                    "type": "synonym"
                },
                {
                    "name": "RETGC1",
                    "type": "synonym"
                },
                {
                    "name": "RETGC",
                    "type": "synonym"
                },
                {
                    "name": "ROS-GC1",
                    "type": "synonym"
                },
                {
                    "name": "ROSGC",
                    "type": "synonym"
                },
                {
                    "name": "retGC",
                    "type": "synonym"
                }
            ],
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                    "id": "0050534",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050534"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050534"
}