{
    "disease_id": "DOID:0111026",
    "recommended_name": {
        "id": "DOID:0111026",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111026",
        "name": "cone-rod dystrophy 20",
        "description": "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21."
    },
    "synonyms": [
        {
            "id": "DOID:0111026",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111026",
            "name": "CORD20",
            "description": ""
        },
        {
            "id": "MONDO:0014427",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014427",
            "name": "cone-rod dystrophy 20",
            "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene."
        },
        {
            "id": "MONDO:0014427",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014427",
            "name": "CORD20",
            "description": ""
        },
        {
            "id": "MONDO:0014427",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014427",
            "name": "POC1B cone-rod dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014427",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014427",
            "name": "cone-rod dystrophy 20",
            "description": ""
        },
        {
            "id": "MONDO:0014427",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014427",
            "name": "cone-rod dystrophy caused by mutation in POC1B",
            "description": ""
        },
        {
            "id": "MONDO:0014427",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014427",
            "name": "cone-rod dystrophy type 20",
            "description": ""
        },
        {
            "id": "MIM:615973",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615973",
            "name": "Cone-rod dystrophy 20",
            "description": "Cone-rod dystrophy 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111026"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111026",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111026",
            "categories": []
        },
        {
            "id": "MONDO:0014427",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014427",
            "categories": []
        },
        {
            "id": "MIM:615973",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615973",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2CEH0-1",
            "uniprot_ac": "A2CEH0",
            "uniprot_id": "POC1B_DANRE",
            "refseq_ac": "NP_956412",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "POC1 centriolar protein homolog B",
                    "type": "recommended"
                },
                {
                    "name": "POC1 centriolar protein homolog B",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 51B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "poc1b",
                    "type": "recommended"
                },
                {
                    "name": "TUWD12",
                    "type": "synonym"
                },
                {
                    "name": "poc1b",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-164B12.2",
                    "type": "synonym"
                },
                {
                    "name": "tuwd12",
                    "type": "synonym"
                },
                {
                    "name": "wdr51b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fl36w17",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63538",
                    "type": "synonym"
                }
            ],
            "record_id": "A2CEH0-1",
            "evidence": [
                {
                    "id": "0111026",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111026"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BHD1-1",
            "uniprot_ac": "Q8BHD1",
            "uniprot_id": "POC1B_MOUSE",
            "refseq_ac": "NP_082016",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "POC1 centriolar protein homolog B",
                    "type": "recommended"
                },
                {
                    "name": "POC1 centriolar protein homolog B",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 51B",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 51B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Poc1b",
                    "type": "recommended"
                },
                {
                    "name": "4933430F16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Poc1b",
                    "type": "synonym"
                },
                {
                    "name": "Wdr51b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BHD1-1",
            "evidence": [
                {
                    "id": "0111026",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111026"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TC44-1",
            "uniprot_ac": "Q8TC44",
            "uniprot_id": "POC1B_HUMAN",
            "refseq_ac": "NP_001186706",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "POC1 centriolar protein homolog B",
                    "type": "recommended"
                },
                {
                    "name": "POC1 centriolar protein homolog B isoform b",
                    "type": "synonym"
                },
                {
                    "name": "POC1 centriolar protein homolog B",
                    "type": "synonym"
                },
                {
                    "name": "Pix1",
                    "type": "synonym"
                },
                {
                    "name": "Proteome of centriole protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 51B",
                    "type": "synonym"
                },
                {
                    "name": "proteome of centriole protein 1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POC1B",
                    "type": "recommended"
                },
                {
                    "name": "CORD20",
                    "type": "synonym"
                },
                {
                    "name": "PIX1",
                    "type": "synonym"
                },
                {
                    "name": "POC1B",
                    "type": "synonym"
                },
                {
                    "name": "TUWD12",
                    "type": "synonym"
                },
                {
                    "name": "WDR51B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TC44-1",
            "evidence": [
                {
                    "id": "615973",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615973"
                },
                {
                    "id": "0111026",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111026"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZW91-1",
            "uniprot_ac": "D3ZW91",
            "uniprot_id": "POC1B_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "POC1 centriolar protein homolog B",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 51B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Poc1b",
                    "type": "recommended"
                },
                {
                    "name": "Wdr51b",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZW91-1",
            "evidence": [
                {
                    "id": "0111026",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111026"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VU65-1",
            "uniprot_ac": "Q9VU65",
            "uniprot_id": "POC1_DROME",
            "refseq_ac": "NP_648640",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "POC1 centriolar protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG10191-PA",
                    "type": "synonym"
                },
                {
                    "name": "Poc1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Proteome of centrioles 1",
                    "type": "synonym"
                },
                {
                    "name": "proteome of centrioles 1, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Poc1",
                    "type": "recommended"
                },
                {
                    "name": "CG10191",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10191",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10191",
                    "type": "synonym"
                },
                {
                    "name": "POC1",
                    "type": "synonym"
                },
                {
                    "name": "Pix",
                    "type": "synonym"
                },
                {
                    "name": "Poc1",
                    "type": "synonym"
                },
                {
                    "name": "poc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VU65-1",
            "evidence": [
                {
                    "id": "0111026",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111026"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111026"
}