{
    "disease_id": "DOID:0060353",
    "recommended_name": {
        "id": "DOID:0060353",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060353",
        "name": "acrofacial dysostosis Cincinnati type",
        "description": "An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0014651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014651",
            "name": "acrofacial dysostosis Cincinnati type",
            "description": "Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene."
        },
        {
            "id": "MONDO:0014651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014651",
            "name": "POLR1A acrofacial dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0014651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014651",
            "name": "acrofacial dysostosis caused by mutation in POLR1A",
            "description": ""
        },
        {
            "id": "MONDO:0014651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014651",
            "name": "AFDCIN",
            "description": ""
        },
        {
            "id": "MONDO:0014651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014651",
            "name": "acrofacial dysostosis, Cincinnati type",
            "description": ""
        },
        {
            "id": "MIM:616462",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616462",
            "name": "Acrofacial dysostosis, Cincinnati type",
            "description": "Acrofacial dysostosis, Cincinnati type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060353"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060353",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060353",
            "categories": []
        },
        {
            "id": "MONDO:0014651",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014651",
            "categories": []
        },
        {
            "id": "MIM:616462",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616462",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7B0-1",
            "uniprot_ac": "A0ACD6B7B0",
            "uniprot_id": "A0ACD6B7B0_DANRE",
            "refseq_ac": "XP_001922839",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit RPA1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "polr1a",
                    "type": "recommended"
                },
                {
                    "name": "polr1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7B0-1",
            "evidence": [
                {
                    "id": "0060353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35134-1",
            "uniprot_ac": "O35134",
            "uniprot_id": "RPA1_MOUSE",
            "refseq_ac": "NP_033114",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase I subunit RPA1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I largest subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit A",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit RPA1",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase 1-4 (194 kDa subunit)",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I 194 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I subunit A1",
                    "type": "synonym"
                },
                {
                    "name": "RPA194",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr1a",
                    "type": "recommended"
                },
                {
                    "name": "194kDa",
                    "type": "synonym"
                },
                {
                    "name": "2900087K15Rik",
                    "type": "synonym"
                },
                {
                    "name": "3010014K16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Polr1a",
                    "type": "synonym"
                },
                {
                    "name": "RPA194",
                    "type": "synonym"
                },
                {
                    "name": "Rpa1",
                    "type": "synonym"
                },
                {
                    "name": "Rpo1-4",
                    "type": "synonym"
                },
                {
                    "name": "mRPA1",
                    "type": "synonym"
                }
            ],
            "record_id": "O35134-1",
            "evidence": [
                {
                    "id": "0060353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95602-1",
            "uniprot_ac": "O95602",
            "uniprot_id": "RPA1_HUMAN",
            "refseq_ac": "NP_056240",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase I subunit RPA1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "A190",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I largest subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit A1",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit A",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit RPA1",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I 194 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I subunit A1",
                    "type": "synonym"
                },
                {
                    "name": "RPA194",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) I polypeptide A, 194kDa",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) I subunit A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POLR1A",
                    "type": "recommended"
                },
                {
                    "name": "A190",
                    "type": "synonym"
                },
                {
                    "name": "AFDCIN",
                    "type": "synonym"
                },
                {
                    "name": "HLD27",
                    "type": "synonym"
                },
                {
                    "name": "POLR1A",
                    "type": "synonym"
                },
                {
                    "name": "RPA190",
                    "type": "synonym"
                },
                {
                    "name": "RPA194",
                    "type": "synonym"
                },
                {
                    "name": "RPA1",
                    "type": "synonym"
                },
                {
                    "name": "RPO1-4",
                    "type": "synonym"
                },
                {
                    "name": "RPO14",
                    "type": "synonym"
                }
            ],
            "record_id": "O95602-1",
            "evidence": [
                {
                    "id": "616462",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616462"
                },
                {
                    "id": "0060353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10964-1",
            "uniprot_ac": "P10964",
            "uniprot_id": "RPA1_YEAST",
            "refseq_ac": "NP_014986",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase I subunit RPA190",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "A190",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I 190 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I core subunit RPA190",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I largest subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPA190",
                    "type": "recommended"
                },
                {
                    "name": "O6276",
                    "type": "synonym"
                },
                {
                    "name": "RPA190",
                    "type": "synonym"
                },
                {
                    "name": "RPA1",
                    "type": "synonym"
                },
                {
                    "name": "RRN1",
                    "type": "synonym"
                }
            ],
            "record_id": "P10964-1",
            "evidence": [
                {
                    "id": "0060353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54889-1",
            "uniprot_ac": "O54889",
            "uniprot_id": "RPA1_RAT",
            "refseq_ac": "NP_113960",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase I subunit RPA1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "A194",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I A",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I largest subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit A",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit RPA1",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase 1-4",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I 194 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I subunit A1",
                    "type": "synonym"
                },
                {
                    "name": "RPA194",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) I polypeptide A",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) I subunit A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr1a",
                    "type": "recommended"
                },
                {
                    "name": "Polr1a",
                    "type": "synonym"
                },
                {
                    "name": "Rpa1",
                    "type": "synonym"
                },
                {
                    "name": "Rpo1-4",
                    "type": "synonym"
                }
            ],
            "record_id": "O54889-1",
            "evidence": [
                {
                    "id": "0060353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P91875-1",
            "uniprot_ac": "P91875",
            "uniprot_id": "RPA1_DROME",
            "refseq_ac": "NP_523743",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase I subunit A",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "CG10122-PA",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I largest subunit",
                    "type": "synonym"
                },
                {
                    "name": "Polr1A-PA",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I subunit A1",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I subunit A",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I subunit",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PolR1A",
                    "type": "recommended"
                },
                {
                    "name": "153129_at",
                    "type": "synonym"
                },
                {
                    "name": "CG10122",
                    "type": "synonym"
                },
                {
                    "name": "DmRPA1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10122",
                    "type": "synonym"
                },
                {
                    "name": "Polr1A",
                    "type": "synonym"
                },
                {
                    "name": "RPA190",
                    "type": "synonym"
                },
                {
                    "name": "RPA1",
                    "type": "synonym"
                },
                {
                    "name": "RpI1",
                    "type": "synonym"
                },
                {
                    "name": "Rpl1",
                    "type": "synonym"
                }
            ],
            "record_id": "P91875-1",
            "evidence": [
                {
                    "id": "0060353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060353"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060353"
}