{
    "disease_id": "DOID:0080792",
    "recommended_name": {
        "id": "DOID:0080792",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080792",
        "name": "Treacher Collins syndrome 4",
        "description": "A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14."
    },
    "synonyms": [
        {
            "id": "MONDO:0030067",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030067",
            "name": "Treacher Collins syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0030067",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030067",
            "name": "TCS4",
            "description": ""
        },
        {
            "id": "MONDO:0030067",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030067",
            "name": "TREACHER COLLINS SYNDROME 4",
            "description": ""
        },
        {
            "id": "MONDO:0030067",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030067",
            "name": "Treacher-Collins syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0030067",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030067",
            "name": "treacher collins syndrome 4",
            "description": ""
        },
        {
            "id": "MIM:618939",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618939",
            "name": "Treacher Collins syndrome 4",
            "description": "Treacher Collins syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080792"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080792",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080792",
            "categories": []
        },
        {
            "id": "MONDO:0030067",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030067",
            "categories": []
        },
        {
            "id": "MIM:618939",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618939",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P70700-1",
            "uniprot_ac": "P70700",
            "uniprot_id": "RPA2_MOUSE",
            "refseq_ac": "NP_033112",
            "glycoprotein": "no",
            "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 RPA2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I 135 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I 135kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit RPA2",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase 1-2, 128 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "RPA135",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr1b",
                    "type": "recommended"
                },
                {
                    "name": "128kDa",
                    "type": "synonym"
                },
                {
                    "name": "D630020H17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Polr1b",
                    "type": "synonym"
                },
                {
                    "name": "RPA116",
                    "type": "synonym"
                },
                {
                    "name": "RPA135",
                    "type": "synonym"
                },
                {
                    "name": "RPA2",
                    "type": "synonym"
                },
                {
                    "name": "Rpa2",
                    "type": "synonym"
                },
                {
                    "name": "Rpo1-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P70700-1",
            "evidence": [
                {
                    "id": "0080792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080792"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H9Y6-1",
            "uniprot_ac": "Q9H9Y6",
            "uniprot_id": "RPA2_HUMAN",
            "refseq_ac": "NP_001131076",
            "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 RPA2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I 135 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I 135kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit RPA2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit RPA2",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "RPA135",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) I polypeptide B, 128kDa",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) I subunit B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POLR1B",
                    "type": "recommended"
                },
                {
                    "name": "A135",
                    "type": "synonym"
                },
                {
                    "name": "POLR1B",
                    "type": "synonym"
                },
                {
                    "name": "RPA135",
                    "type": "synonym"
                },
                {
                    "name": "RPA2",
                    "type": "synonym"
                },
                {
                    "name": "Rpo1-2",
                    "type": "synonym"
                },
                {
                    "name": "TCS4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H9Y6-1",
            "evidence": [
                {
                    "id": "618939",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618939"
                },
                {
                    "id": "0080792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080792"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22138-1",
            "uniprot_ac": "P22138",
            "uniprot_id": "RPA2_YEAST",
            "refseq_ac": "NP_015335",
            "glycoprotein": "yes",
            "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 RPA135",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "A135",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I 135 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I core subunit RPA135",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I polypeptide 2",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I subunit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPA135",
                    "type": "recommended"
                },
                {
                    "name": "RPA135",
                    "type": "synonym"
                },
                {
                    "name": "RPA2",
                    "type": "synonym"
                },
                {
                    "name": "RRN2",
                    "type": "synonym"
                },
                {
                    "name": "SRP3",
                    "type": "synonym"
                },
                {
                    "name": "YP9531.03C",
                    "type": "synonym"
                }
            ],
            "record_id": "P22138-1",
            "evidence": [
                {
                    "id": "0080792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080792"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54888-1",
            "uniprot_ac": "O54888",
            "uniprot_id": "RPA2_RAT",
            "refseq_ac": "NP_113961",
            "glycoprotein": "no",
            "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 RPA2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "A127",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit RPA2",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase 1-2",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I (127 kDa subunit)",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I polypeptide B",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "RPA135",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) I polypeptide B",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) I subunit B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr1b",
                    "type": "recommended"
                },
                {
                    "name": "Polr1b",
                    "type": "synonym"
                },
                {
                    "name": "RPA2",
                    "type": "synonym"
                },
                {
                    "name": "Rpa2",
                    "type": "synonym"
                },
                {
                    "name": "Rpo1-2",
                    "type": "synonym"
                }
            ],
            "record_id": "O54888-1",
            "evidence": [
                {
                    "id": "0080792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080792"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20028-1",
            "uniprot_ac": "P20028",
            "uniprot_id": "RPA2_DROME",
            "refseq_ac": "NP_476708",
            "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 RPA2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.6",
                    "type": "synonym"
                },
                {
                    "name": "CG4033-PA",
                    "type": "synonym"
                },
                {
                    "name": "Polr1B-PA",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I 135kD subunit",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I subunit B",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I",
                    "type": "synonym"
                },
                {
                    "name": "RPA135",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr1B",
                    "type": "recommended"
                },
                {
                    "name": "CG4033",
                    "type": "synonym"
                },
                {
                    "name": "DmRP135",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4033",
                    "type": "synonym"
                },
                {
                    "name": "Polr1B",
                    "type": "synonym"
                },
                {
                    "name": "RP135",
                    "type": "synonym"
                },
                {
                    "name": "RPA135",
                    "type": "synonym"
                },
                {
                    "name": "RPI135",
                    "type": "synonym"
                },
                {
                    "name": "RpI135",
                    "type": "synonym"
                },
                {
                    "name": "RpIII135",
                    "type": "synonym"
                },
                {
                    "name": "Rpl135",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k16513",
                    "type": "synonym"
                }
            ],
            "record_id": "P20028-1",
            "evidence": [
                {
                    "id": "0080792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080792"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080792"
}