{
    "disease_id": "DOID:0061105",
    "recommended_name": {
        "id": "DOID:0061105",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061105",
        "name": "retinitis pigmentosa 93",
        "description": "A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15."
    },
    "synonyms": [
        {
            "id": "DOID:0061105",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061105",
            "name": "RP93",
            "description": ""
        },
        {
            "id": "MONDO:0030797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030797",
            "name": "retinitis pigmentosa 93",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CC2D2A gene."
        },
        {
            "id": "MONDO:0030797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030797",
            "name": "CC2D2A retinitis pigmentosa 93",
            "description": ""
        },
        {
            "id": "MONDO:0030797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030797",
            "name": "RP93",
            "description": ""
        },
        {
            "id": "MONDO:0030797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030797",
            "name": "retinitis pigmentosa 93",
            "description": ""
        },
        {
            "id": "MIM:619845",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619845",
            "name": "Retinitis pigmentosa 93",
            "description": "Retinitis pigmentosa 93"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061105"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061105",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061105",
            "categories": []
        },
        {
            "id": "MONDO:0030797",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030797",
            "categories": []
        },
        {
            "id": "MIM:619845",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619845",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58INI6-1",
            "uniprot_ac": "A0AC58INI6",
            "uniprot_id": "A0AC58INI6_DANRE",
            "refseq_ac": "XP_073795759",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil and C2 domain-containing protein 2A isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 2A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cc2d2a",
                    "type": "recommended"
                },
                {
                    "name": "cc2d2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58INI6-1",
            "evidence": [
                {
                    "id": "0061105",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061105"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CFW7-1",
            "uniprot_ac": "Q8CFW7",
            "uniprot_id": "C2D2A_MOUSE",
            "refseq_ac": "NP_758478",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil and C2 domain-containing protein 2A",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 2A isoform a",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cc2d2a",
                    "type": "recommended"
                },
                {
                    "name": "5730509K17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cc2d2a",
                    "type": "synonym"
                },
                {
                    "name": "b2b1035Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CFW7-1",
            "evidence": [
                {
                    "id": "0061105",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061105"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P2K1-4",
            "uniprot_ac": "Q9P2K1",
            "uniprot_id": "C2D2A_HUMAN",
            "refseq_ac": "NP_001073991",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil and C2 domain-containing protein 2A",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 2A isoform a",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CC2D2A",
                    "type": "recommended"
                },
                {
                    "name": "CC2D2A",
                    "type": "synonym"
                },
                {
                    "name": "COACH2",
                    "type": "synonym"
                },
                {
                    "name": "JBTS9",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1345",
                    "type": "synonym"
                },
                {
                    "name": "MKS6",
                    "type": "synonym"
                },
                {
                    "name": "RP93",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P2K1-4",
            "evidence": [
                {
                    "id": "619845",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619845"
                },
                {
                    "id": "0061105",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061105"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K9D9-1",
            "uniprot_ac": "A0A0G2K9D9",
            "uniprot_id": "A0A0G2K9D9_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": "Coiled-coil and C2 domain containing 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cc2d2a",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2K9D9-1",
            "evidence": [
                {
                    "id": "0061105",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061105"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAV1-1",
            "uniprot_ac": "A1ZAV1",
            "uniprot_id": "C2D2A_DROME",
            "refseq_ac": "NP_611229",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil and C2 domain-containing protein 2A",
                    "type": "recommended"
                },
                {
                    "name": "CG43370-PD",
                    "type": "synonym"
                },
                {
                    "name": "Cc2d2a-PD",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil and C2 domain containing 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cc2d2a",
                    "type": "recommended"
                },
                {
                    "name": "CC2D2A",
                    "type": "synonym"
                },
                {
                    "name": "CG18432",
                    "type": "synonym"
                },
                {
                    "name": "CG18631",
                    "type": "synonym"
                },
                {
                    "name": "CG43370",
                    "type": "synonym"
                },
                {
                    "name": "Cc2d2a",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43370",
                    "type": "synonym"
                },
                {
                    "name": "MKS6",
                    "type": "synonym"
                },
                {
                    "name": "Mks6",
                    "type": "synonym"
                },
                {
                    "name": "cc2d2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAV1-1",
            "evidence": [
                {
                    "id": "0061105",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061105"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061105"
}