{
    "disease_id": "DOID:0110364",
    "recommended_name": {
        "id": "DOID:0110364",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110364",
        "name": "retinitis pigmentosa 54",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23."
    },
    "synonyms": [
        {
            "id": "DOID:0110364",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110364",
            "name": "RP54",
            "description": ""
        },
        {
            "id": "MONDO:0013263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013263",
            "name": "retinitis pigmentosa 54",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene."
        },
        {
            "id": "MONDO:0013263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013263",
            "name": "PCARE retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0013263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013263",
            "name": "RP54",
            "description": ""
        },
        {
            "id": "MONDO:0013263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013263",
            "name": "retinitis pigmentosa 54",
            "description": ""
        },
        {
            "id": "MONDO:0013263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013263",
            "name": "retinitis pigmentosa caused by mutation in PCARE",
            "description": ""
        },
        {
            "id": "MONDO:0013263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013263",
            "name": "retinitis pigmentosa type 54",
            "description": ""
        },
        {
            "id": "MIM:613428",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613428",
            "name": "Retinitis pigmentosa 54",
            "description": "Retinitis pigmentosa 54"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110364"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110364",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110364",
            "categories": []
        },
        {
            "id": "MONDO:0013263",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013263",
            "categories": []
        },
        {
            "id": "MIM:613428",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613428",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0G2KDL6-1",
            "uniprot_ac": "A0A0G2KDL6",
            "uniprot_id": "A0A0G2KDL6_DANRE",
            "refseq_ac": "XP_003200429",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Photoreceptor cilium actin regulator",
                    "type": "synonym"
                },
                {
                    "name": "photoreceptor cilium actin regulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pcare1",
                    "type": "recommended"
                },
                {
                    "name": "pcare1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2KDL6-1",
            "evidence": [
                {
                    "id": "0110364",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110364"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ACD6B6U4-1",
            "uniprot_ac": "A0ACD6B6U4",
            "uniprot_id": "A0ACD6B6U4_DANRE",
            "refseq_ac": "XP_003200702",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein pcare2",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein pcare2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pcare2",
                    "type": "recommended"
                },
                {
                    "name": "pcare2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6U4-1",
            "evidence": [
                {
                    "id": "0110364",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110364"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PAC4-1",
            "uniprot_ac": "Q6PAC4",
            "uniprot_id": "PCARE_MOUSE",
            "refseq_ac": "NP_666194",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Photoreceptor cilium actin regulator",
                    "type": "recommended"
                },
                {
                    "name": "photoreceptor cilium actin regulator isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C2orf71 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcare",
                    "type": "recommended"
                },
                {
                    "name": "Pcare",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PAC4-1",
            "evidence": [
                {
                    "id": "0110364",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110364"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A6NGG8-1",
            "uniprot_ac": "A6NGG8",
            "uniprot_id": "PCARE_HUMAN",
            "refseq_ac": "NP_001025054",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Photoreceptor cilium actin regulator",
                    "type": "recommended"
                },
                {
                    "name": "photoreceptor cilium actin regulator",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C2orf71",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PCARE",
                    "type": "recommended"
                },
                {
                    "name": "C2orf71",
                    "type": "synonym"
                },
                {
                    "name": "PCARE",
                    "type": "synonym"
                },
                {
                    "name": "RP54",
                    "type": "synonym"
                }
            ],
            "record_id": "A6NGG8-1",
            "evidence": [
                {
                    "id": "613428",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613428"
                },
                {
                    "id": "0110364",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110364"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZS67-1",
            "uniprot_ac": "D3ZS67",
            "uniprot_id": "D3ZS67_RAT",
            "refseq_ac": "NP_001386165",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Photoreceptor cilium actin regulator",
                    "type": "synonym"
                },
                {
                    "name": "photoreceptor cilium actin regulator",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C2orf71 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcare",
                    "type": "recommended"
                },
                {
                    "name": "Pcare",
                    "type": "synonym"
                },
                {
                    "name": "RGD1304963",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZS67-1",
            "evidence": [
                {
                    "id": "0110364",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110364"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110364"
}