{
    "disease_id": "DOID:0110871",
    "recommended_name": {
        "id": "DOID:0110871",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110871",
        "name": "congenital stationary night blindness 2A",
        "description": "A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0110871",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110871",
            "name": "congenital stationary night blindness 2A X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010241",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010241",
            "name": "congenital stationary night blindness 2A",
            "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene."
        },
        {
            "id": "MONDO:0010241",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010241",
            "name": "CACNA1F congenital stationary night blindness",
            "description": ""
        },
        {
            "id": "MONDO:0010241",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010241",
            "name": "CSNB, incomplete, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010241",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010241",
            "name": "congenital stationary night blindness caused by mutation in CACNA1F",
            "description": ""
        },
        {
            "id": "MONDO:0010241",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010241",
            "name": "congenital stationary night blindness type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0010241",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010241",
            "name": "night blindness, congenital stationary (incomplete), 2A, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010241",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010241",
            "name": "CSNB2A",
            "description": ""
        },
        {
            "id": "MONDO:0010241",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010241",
            "name": "night blindness, congenital stationary, type 2A",
            "description": ""
        },
        {
            "id": "MIM:300071",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300071",
            "name": "Night blindness, congenital stationary, 2A",
            "description": "Night blindness, congenital stationary, 2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110871"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110871",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110871",
            "categories": []
        },
        {
            "id": "MONDO:0010241",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010241",
            "categories": []
        },
        {
            "id": "MIM:300071",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300071",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PQW6-1",
            "uniprot_ac": "A0A8M9PQW6",
            "uniprot_id": "A0A8M9PQW6_DANRE",
            "refseq_ac": "XP_021333942",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "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"
                }
            ],
            "record_id": "A0A8M9PQW6-1",
            "evidence": [
                {
                    "id": "0110871",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110871"
                }
            ]
        },
        {
            "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": "0110871",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110871"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60840-1",
            "uniprot_ac": "O60840",
            "uniprot_id": "CAC1F_HUMAN",
            "refseq_ac": "NP_001243718",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "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"
                },
                {
                    "name": "calcium channel, voltage-dependent, L type, alpha 1F subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit alpha-1F isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel subunit alpha Cav1.4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CACNA1F",
                    "type": "recommended"
                },
                {
                    "name": "AIED",
                    "type": "synonym"
                },
                {
                    "name": "CACNA1F",
                    "type": "synonym"
                },
                {
                    "name": "CACNAF1",
                    "type": "synonym"
                },
                {
                    "name": "COD3",
                    "type": "synonym"
                },
                {
                    "name": "COD4",
                    "type": "synonym"
                },
                {
                    "name": "CORDX3",
                    "type": "synonym"
                },
                {
                    "name": "CORDX",
                    "type": "synonym"
                },
                {
                    "name": "CSNB2A",
                    "type": "synonym"
                },
                {
                    "name": "CSNB2",
                    "type": "synonym"
                },
                {
                    "name": "CSNBX2",
                    "type": "synonym"
                },
                {
                    "name": "Cav1.4alpha1",
                    "type": "synonym"
                },
                {
                    "name": "Cav1.4",
                    "type": "synonym"
                },
                {
                    "name": "JM8",
                    "type": "synonym"
                },
                {
                    "name": "JMC8",
                    "type": "synonym"
                },
                {
                    "name": "OA2",
                    "type": "synonym"
                }
            ],
            "record_id": "O60840-1",
            "evidence": [
                {
                    "id": "300071",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300071"
                },
                {
                    "id": "0110871",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110871"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02846-1",
            "uniprot_ac": "Q02846",
            "uniprot_id": "GUC2D_HUMAN",
            "refseq_ac": "NP_000171",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal guanylyl cyclase 1",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG-E",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase 2D, retinal",
                    "type": "synonym"
                },
                {
                    "name": "RETGC-1",
                    "type": "synonym"
                },
                {
                    "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)",
                    "type": "synonym"
                },
                {
                    "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"
                }
            ],
            "gene_names": [
                {
                    "name": "GUCY2D",
                    "type": "recommended"
                },
                {
                    "name": "CACD1",
                    "type": "synonym"
                },
                {
                    "name": "CACD",
                    "type": "synonym"
                },
                {
                    "name": "CG-E",
                    "type": "synonym"
                },
                {
                    "name": "CORD5",
                    "type": "synonym"
                },
                {
                    "name": "CORD6",
                    "type": "synonym"
                },
                {
                    "name": "CSNB1I",
                    "type": "synonym"
                },
                {
                    "name": "CYGD",
                    "type": "synonym"
                },
                {
                    "name": "GUC1A4",
                    "type": "synonym"
                },
                {
                    "name": "GUC2D",
                    "type": "synonym"
                },
                {
                    "name": "GUCY2D",
                    "type": "synonym"
                },
                {
                    "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"
                }
            ],
            "record_id": "Q02846-1",
            "evidence": [
                {
                    "id": "300071",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50077-1",
            "uniprot_ac": "P50077",
            "uniprot_id": "CCH1_YEAST",
            "refseq_ac": "NP_011733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-channel protein CCH1",
                    "type": "recommended"
                },
                {
                    "name": "calcium channel protein CCH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCH1",
                    "type": "recommended"
                },
                {
                    "name": "CCH1",
                    "type": "synonym"
                },
                {
                    "name": "G8501",
                    "type": "synonym"
                }
            ],
            "record_id": "P50077-1",
            "evidence": [
                {
                    "id": "0110871",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110871"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V9W8-1",
            "uniprot_ac": "G3V9W8",
            "uniprot_id": "G3V9W8_RAT",
            "refseq_ac": "NP_446153",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent L-type calcium channel subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "calcium channel, voltage-dependent, L type, alpha 1F subunit",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, alpha 1F subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit alpha-1F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna1f",
                    "type": "recommended"
                },
                {
                    "name": "Cacna1f",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V9W8-1",
            "evidence": [
                {
                    "id": "0110871",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110871"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24270-1",
            "uniprot_ac": "Q24270",
            "uniprot_id": "CAC1D_DROME",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent calcium channel type D subunit alpha-1",
                    "type": "recommended"
                },
                {
                    "name": "DmCa1D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ca-alpha1D",
                    "type": "recommended"
                },
                {
                    "name": "A1D",
                    "type": "synonym"
                },
                {
                    "name": "BG:DS02795.1",
                    "type": "synonym"
                },
                {
                    "name": "CAD",
                    "type": "synonym"
                },
                {
                    "name": "CG4894",
                    "type": "synonym"
                },
                {
                    "name": "Ca-Alpha1D",
                    "type": "synonym"
                },
                {
                    "name": "Ca-_1D",
                    "type": "synonym"
                },
                {
                    "name": "Ca-a1D",
                    "type": "synonym"
                },
                {
                    "name": "Ca-alpha1",
                    "type": "synonym"
                },
                {
                    "name": "Ca-alphaID",
                    "type": "synonym"
                },
                {
                    "name": "Ca-alpha[[1]]D",
                    "type": "synonym"
                },
                {
                    "name": "Ca1D",
                    "type": "synonym"
                },
                {
                    "name": "Ca_alpha1D",
                    "type": "synonym"
                },
                {
                    "name": "Caalpha1D",
                    "type": "synonym"
                },
                {
                    "name": "D-type Ca[2+]",
                    "type": "synonym"
                },
                {
                    "name": "DmCa1D",
                    "type": "synonym"
                },
                {
                    "name": "DmCa1alpha1",
                    "type": "synonym"
                },
                {
                    "name": "Dmca1D",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4894",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4894",
                    "type": "synonym"
                },
                {
                    "name": "DroCa1",
                    "type": "synonym"
                },
                {
                    "name": "alpha1D",
                    "type": "synonym"
                },
                {
                    "name": "alpha1",
                    "type": "synonym"
                },
                {
                    "name": "ca-alpha1D",
                    "type": "synonym"
                },
                {
                    "name": "ca-alpha1d",
                    "type": "synonym"
                },
                {
                    "name": "caID",
                    "type": "synonym"
                },
                {
                    "name": "cad",
                    "type": "synonym"
                },
                {
                    "name": "dmca1D",
                    "type": "synonym"
                },
                {
                    "name": "l(2)35Fa",
                    "type": "synonym"
                },
                {
                    "name": "l35Fa",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24270-1",
            "evidence": [
                {
                    "id": "0110871",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110871"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110871"
}