{
    "disease_id": "DOID:0110867",
    "recommended_name": {
        "id": "DOID:0110867",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110867",
        "name": "congenital stationary night blindness 1C",
        "description": "A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14."
    },
    "synonyms": [
        {
            "id": "DOID:0110867",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110867",
            "name": "CSNB1C",
            "description": ""
        },
        {
            "id": "DOID:0110867",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110867",
            "name": "congenital stationary night blindness 1C autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013183",
            "name": "congenital stationary night blindness 1C",
            "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene."
        },
        {
            "id": "MONDO:0013183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013183",
            "name": "CSNB1C",
            "description": ""
        },
        {
            "id": "MONDO:0013183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013183",
            "name": "TRPM1 congenital stationary night blindness",
            "description": ""
        },
        {
            "id": "MONDO:0013183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013183",
            "name": "congenital stationary night blindness 1C",
            "description": ""
        },
        {
            "id": "MONDO:0013183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013183",
            "name": "congenital stationary night blindness caused by mutation in TRPM1",
            "description": ""
        },
        {
            "id": "MONDO:0013183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013183",
            "name": "congenital stationary night blindness type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0013183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013183",
            "name": "night blindness, congenital stationary (complete), 1C, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013183",
            "name": "night blindness, congenital stationary, type 1C",
            "description": ""
        },
        {
            "id": "MIM:613216",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613216",
            "name": "Night blindness, congenital stationary, 1C",
            "description": "Night blindness, congenital stationary, 1C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110867"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110867",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110867",
            "categories": []
        },
        {
            "id": "MONDO:0013183",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013183",
            "categories": []
        },
        {
            "id": "MIM:613216",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613216",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6Z1K6-1",
            "uniprot_ac": "A0A8M6Z1K6",
            "uniprot_id": "A0A8M6Z1K6_DANRE",
            "refseq_ac": "NP_001428456",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "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"
                }
            ],
            "record_id": "A0A8M6Z1K6-1",
            "evidence": [
                {
                    "id": "0110867",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110867"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2TV84-1",
            "uniprot_ac": "Q2TV84",
            "uniprot_id": "TRPM1_MOUSE",
            "refseq_ac": "NP_001034193",
            "glycoprotein": "yes",
            "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 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",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpm1",
                    "type": "recommended"
                },
                {
                    "name": "4732499L03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ltrpc1",
                    "type": "synonym"
                },
                {
                    "name": "Mlsn1",
                    "type": "synonym"
                },
                {
                    "name": "Trpm1",
                    "type": "synonym"
                },
                {
                    "name": "rd15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2TV84-1",
            "evidence": [
                {
                    "id": "0110867",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110867"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z4N2-1",
            "uniprot_ac": "Q7Z4N2",
            "uniprot_id": "TRPM1_HUMAN",
            "refseq_ac": "NP_001238949",
            "glycoprotein": "yes",
            "species": [
                {
                    "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 M member 1",
                    "type": "recommended"
                },
                {
                    "name": "LTrpC1",
                    "type": "synonym"
                },
                {
                    "name": "Long transient receptor potential channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Melastatin-1",
                    "type": "synonym"
                },
                {
                    "name": "TRPM1-203 APA Isoform, Intron 10",
                    "type": "synonym"
                },
                {
                    "name": "TRPM1-203 APA Isoform, Intron 3",
                    "type": "synonym"
                },
                {
                    "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"
                }
            ],
            "gene_names": [
                {
                    "name": "TRPM1",
                    "type": "recommended"
                },
                {
                    "name": "CSNB1C",
                    "type": "synonym"
                },
                {
                    "name": "LTRPC1",
                    "type": "synonym"
                },
                {
                    "name": "MLSN1",
                    "type": "synonym"
                },
                {
                    "name": "MLSN",
                    "type": "synonym"
                },
                {
                    "name": "TRPM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z4N2-1",
            "evidence": [
                {
                    "id": "613216",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613216"
                },
                {
                    "id": "0110867",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110867"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2WEA5-1",
            "uniprot_ac": "Q2WEA5",
            "uniprot_id": "TRPM1_RAT",
            "refseq_ac": "NP_001032822",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 1",
                    "type": "recommended"
                },
                {
                    "name": "Melastatin-1",
                    "type": "synonym"
                },
                {
                    "name": "melastatin-1",
                    "type": "synonym"
                },
                {
                    "name": "melastatin",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpm1",
                    "type": "recommended"
                },
                {
                    "name": "Trpm1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2WEA5-1",
            "evidence": [
                {
                    "id": "0110867",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110867"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DYE2-1",
            "uniprot_ac": "A8DYE2",
            "uniprot_id": "TRPCG_DROME",
            "refseq_ac": "NP_001036548",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel trpm",
                    "type": "recommended"
                },
                {
                    "name": "CG44240-PB",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor potential cation channel, subfamily M ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Trpm-PB",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel, subfamily M ortholog",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel, subfamily M, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential channel M",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpm",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH04950",
                    "type": "synonym"
                },
                {
                    "name": "CG16805",
                    "type": "synonym"
                },
                {
                    "name": "CG30078",
                    "type": "synonym"
                },
                {
                    "name": "CG30079",
                    "type": "synonym"
                },
                {
                    "name": "CG34123",
                    "type": "synonym"
                },
                {
                    "name": "CG34187",
                    "type": "synonym"
                },
                {
                    "name": "CG44240",
                    "type": "synonym"
                },
                {
                    "name": "DmTRPM",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44240",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG44240",
                    "type": "synonym"
                },
                {
                    "name": "TRPM",
                    "type": "synonym"
                },
                {
                    "name": "TrpM",
                    "type": "synonym"
                },
                {
                    "name": "Trpm",
                    "type": "synonym"
                },
                {
                    "name": "dTRPM",
                    "type": "synonym"
                },
                {
                    "name": "mdcds_11815",
                    "type": "synonym"
                },
                {
                    "name": "trpm",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DYE2-1",
            "evidence": [
                {
                    "id": "0110867",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110867"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110867"
}