{
    "disease_id": "DOID:0110377",
    "recommended_name": {
        "id": "DOID:0110377",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110377",
        "name": "retinitis pigmentosa 49",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12."
    },
    "synonyms": [
        {
            "id": "DOID:0110377",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110377",
            "name": "RP49",
            "description": ""
        },
        {
            "id": "MONDO:0013405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013405",
            "name": "retinitis pigmentosa 49",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene."
        },
        {
            "id": "MONDO:0013405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013405",
            "name": "CNGA1 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0013405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013405",
            "name": "RP49",
            "description": ""
        },
        {
            "id": "MONDO:0013405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013405",
            "name": "retinitis pigmentosa 49",
            "description": ""
        },
        {
            "id": "MONDO:0013405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013405",
            "name": "retinitis pigmentosa caused by mutation in CNGA1",
            "description": ""
        },
        {
            "id": "MONDO:0013405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013405",
            "name": "retinitis pigmentosa type 49",
            "description": ""
        },
        {
            "id": "MIM:613756",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613756",
            "name": "Retinitis pigmentosa 49",
            "description": "Retinitis pigmentosa 49"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110377"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110377",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110377",
            "categories": []
        },
        {
            "id": "MONDO:0013405",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013405",
            "categories": []
        },
        {
            "id": "MIM:613756",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613756",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5U3-1",
            "uniprot_ac": "A0ACD6B5U3",
            "uniprot_id": "A0ACD6B5U3_DANRE",
            "refseq_ac": "XP_701036",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide-gated channel alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel alpha-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cnga1b",
                    "type": "recommended"
                },
                {
                    "name": "cnga1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5U3-1",
            "evidence": [
                {
                    "id": "0110377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110377"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B8JHY6-1",
            "uniprot_ac": "B8JHY6",
            "uniprot_id": "B8JHY6_DANRE",
            "refseq_ac": "NP_001139095",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide gated channel subunit alpha 1a",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide gated channel alpha 1a",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide gated channel subunit alpha 1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cnga1a",
                    "type": "recommended"
                },
                {
                    "name": "cnga1a",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-22i16.2",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JHY6-1",
            "evidence": [
                {
                    "id": "0110377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110377"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29974-1",
            "uniprot_ac": "P29974",
            "uniprot_id": "CNGA1_MOUSE",
            "refseq_ac": "NP_031749",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide-gated channel alpha-1",
                    "type": "recommended"
                },
                {
                    "name": "CNG channel alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "CNG-1",
                    "type": "synonym"
                },
                {
                    "name": "CNG1",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated cation channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated channel, photoreceptor",
                    "type": "synonym"
                },
                {
                    "name": "Rod photoreceptor cGMP-gated cation channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-gated cation channel alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide gated channel, cGMP gated",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel 1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel, photoreceptor",
                    "type": "synonym"
                },
                {
                    "name": "rod photoreceptor cGMP-gated cation channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "rod photoreceptor cGMP-gated channel subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnga1",
                    "type": "recommended"
                },
                {
                    "name": "Cncg1",
                    "type": "synonym"
                },
                {
                    "name": "Cncg",
                    "type": "synonym"
                },
                {
                    "name": "Cnga1",
                    "type": "synonym"
                }
            ],
            "record_id": "P29974-1",
            "evidence": [
                {
                    "id": "0110377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110377"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29973-1",
            "uniprot_ac": "P29973",
            "uniprot_id": "CNGA1_HUMAN",
            "refseq_ac": "NP_000078",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide-gated channel alpha-1",
                    "type": "recommended"
                },
                {
                    "name": "CNG channel alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "CNG-1",
                    "type": "synonym"
                },
                {
                    "name": "CNG1",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated channel, photoreceptor",
                    "type": "synonym"
                },
                {
                    "name": "Rod photoreceptor cGMP-gated cation channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-gated cation channel alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide gated channel alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel 1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel, photoreceptor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 homologue",
                    "type": "synonym"
                },
                {
                    "name": "rod photoreceptor cGMP-gated cation channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "rod photoreceptor cGMP-gated channel subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNGA1",
                    "type": "recommended"
                },
                {
                    "name": "CNCG1",
                    "type": "synonym"
                },
                {
                    "name": "CNCG",
                    "type": "synonym"
                },
                {
                    "name": "CNG-1",
                    "type": "synonym"
                },
                {
                    "name": "CNG1",
                    "type": "synonym"
                },
                {
                    "name": "CNGA1",
                    "type": "synonym"
                },
                {
                    "name": "RCNC1",
                    "type": "synonym"
                },
                {
                    "name": "RCNCalpha",
                    "type": "synonym"
                },
                {
                    "name": "RCNCa",
                    "type": "synonym"
                },
                {
                    "name": "RP49",
                    "type": "synonym"
                }
            ],
            "record_id": "P29973-1",
            "evidence": [
                {
                    "id": "613756",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613756"
                },
                {
                    "id": "0110377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110377"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62927-1",
            "uniprot_ac": "Q62927",
            "uniprot_id": "CNGA1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide-gated channel alpha-1",
                    "type": "recommended"
                },
                {
                    "name": "CNG channel alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "CNG-1",
                    "type": "synonym"
                },
                {
                    "name": "CNG1",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated cation channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated channel, photoreceptor",
                    "type": "synonym"
                },
                {
                    "name": "Rod photoreceptor cGMP-gated cation channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-gated cation channel alpha-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnga1",
                    "type": "recommended"
                },
                {
                    "name": "Cncg1",
                    "type": "synonym"
                },
                {
                    "name": "Cncg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62927-1",
            "evidence": [
                {
                    "id": "0110377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110377"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14056-1",
            "uniprot_ac": "P14056",
            "uniprot_id": "ARAF_RAT",
            "refseq_ac": "NP_071977",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase A-Raf",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "A-Raf proto-oncogene serine/threonine-protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene A-Raf-1",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene A-Raf",
                    "type": "synonym"
                },
                {
                    "name": "Raf related protein",
                    "type": "synonym"
                },
                {
                    "name": "Ras-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene A-Raf-1",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene A-Raf",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase A-Raf isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase A-Raf",
                    "type": "synonym"
                },
                {
                    "name": "v-raf murine sarcoma 3611 viral oncogene homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "v-raf oncogene homolog 1 (murine sarcoma 3611 virus)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Araf",
                    "type": "recommended"
                },
                {
                    "name": "A-raf",
                    "type": "synonym"
                },
                {
                    "name": "Araf1",
                    "type": "synonym"
                },
                {
                    "name": "Araf",
                    "type": "synonym"
                }
            ],
            "record_id": "P14056-1",
            "evidence": [
                {
                    "id": "0110377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110377"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24278-1",
            "uniprot_ac": "Q24278",
            "uniprot_id": "CNGA_DROME",
            "refseq_ac": "NP_477116",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide-gated cation channel subunit A",
                    "type": "recommended"
                },
                {
                    "name": "CG42701-PA",
                    "type": "synonym"
                },
                {
                    "name": "CNG channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "CNG channel",
                    "type": "synonym"
                },
                {
                    "name": "CNG-channel",
                    "type": "synonym"
                },
                {
                    "name": "CngA-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated ion channel subunit A",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic-nucleotide-gated ion channel protein",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated ion channel subunit A, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CngA",
                    "type": "recommended"
                },
                {
                    "name": "CG15709",
                    "type": "synonym"
                },
                {
                    "name": "CG42701",
                    "type": "synonym"
                },
                {
                    "name": "CG7779",
                    "type": "synonym"
                },
                {
                    "name": "CNG",
                    "type": "synonym"
                },
                {
                    "name": "CngA",
                    "type": "synonym"
                },
                {
                    "name": "Cng",
                    "type": "synonym"
                },
                {
                    "name": "DmCNGA",
                    "type": "synonym"
                },
                {
                    "name": "DmCNGC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42701",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42701",
                    "type": "synonym"
                },
                {
                    "name": "cngA",
                    "type": "synonym"
                },
                {
                    "name": "cng",
                    "type": "synonym"
                },
                {
                    "name": "dCNCalpha",
                    "type": "synonym"
                },
                {
                    "name": "dmCNGA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24278-1",
            "evidence": [
                {
                    "id": "0110377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110377"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110377"
}