{
    "disease_id": "DOID:0080790",
    "recommended_name": {
        "id": "DOID:0080790",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080790",
        "name": "Treacher Collins syndrome 2",
        "description": "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0013385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013385",
            "name": "Treacher Collins syndrome 2",
            "description": "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene."
        },
        {
            "id": "MONDO:0013385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013385",
            "name": "POLR1D Treacher-Collins syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013385",
            "name": "Treacher Collins syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013385",
            "name": "Treacher Collins syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013385",
            "name": "Treacher-Collins syndrome caused by mutation in POLR1D",
            "description": ""
        },
        {
            "id": "MONDO:0013385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013385",
            "name": "TCS2",
            "description": ""
        },
        {
            "id": "MIM:613717",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613717",
            "name": "Treacher Collins syndrome 2",
            "description": "Treacher Collins syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080790"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080790",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080790",
            "categories": []
        },
        {
            "id": "MONDO:0013385",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013385",
            "categories": []
        },
        {
            "id": "MIM:613717",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613717",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DRI4-1",
            "uniprot_ac": "Q6DRI4",
            "uniprot_id": "RPAC2_DANRE",
            "refseq_ac": "NP_001003888",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerases I and III subunit RPAC2",
                    "type": "recommended"
                },
                {
                    "name": "AC19",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit D",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerases I and III subunit RPAC2",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I polypeptide D",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerases I and III subunit AC2",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) I polypeptide D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "polr1d",
                    "type": "recommended"
                },
                {
                    "name": "im:7162148",
                    "type": "synonym"
                },
                {
                    "name": "polr1d",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136449",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DRI4-1",
            "evidence": [
                {
                    "id": "0080790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97304-1",
            "uniprot_ac": "P97304",
            "uniprot_id": "RPAC2_MOUSE",
            "refseq_ac": "NP_033113",
            "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 polymerases I and III subunit RPAC2",
                    "type": "recommended"
                },
                {
                    "name": "AC19",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I 16 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit D",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerases I and III subunit RPAC2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerases I and III subunit RPAC2",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase 1-3",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I 16 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerases I and III subunit AC2",
                    "type": "synonym"
                },
                {
                    "name": "RPA16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr1d",
                    "type": "recommended"
                },
                {
                    "name": "1110003G10Rik",
                    "type": "synonym"
                },
                {
                    "name": "AC19",
                    "type": "synonym"
                },
                {
                    "name": "Polr1d",
                    "type": "synonym"
                },
                {
                    "name": "RPA16",
                    "type": "synonym"
                },
                {
                    "name": "Rpo1-3",
                    "type": "synonym"
                }
            ],
            "record_id": "P97304-1",
            "evidence": [
                {
                    "id": "0080790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0DPB6-1",
            "uniprot_ac": "P0DPB6",
            "uniprot_id": "RPAC2_HUMAN",
            "refseq_ac": "NP_057056",
            "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 polymerases I and III subunit RPAC2",
                    "type": "recommended"
                },
                {
                    "name": "AC19",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit D",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerases I and III subunit RPAC2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerases I and III subunit RPAC2",
                    "type": "synonym"
                },
                {
                    "name": "Protein POLR1D",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I 16 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I subunit D",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerases I and III subunit AC2",
                    "type": "synonym"
                },
                {
                    "name": "RPA16",
                    "type": "synonym"
                },
                {
                    "name": "RPC16",
                    "type": "synonym"
                },
                {
                    "name": "hRPA19",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) I polypeptide D, 16kDa",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) I subunit D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POLR1D",
                    "type": "recommended"
                },
                {
                    "name": "AC19",
                    "type": "synonym"
                },
                {
                    "name": "POLR1D",
                    "type": "synonym"
                },
                {
                    "name": "RPA16",
                    "type": "synonym"
                },
                {
                    "name": "RPA9",
                    "type": "synonym"
                },
                {
                    "name": "RPAC2",
                    "type": "synonym"
                },
                {
                    "name": "RPC16",
                    "type": "synonym"
                },
                {
                    "name": "RPO1-3",
                    "type": "synonym"
                },
                {
                    "name": "TCS2",
                    "type": "synonym"
                }
            ],
            "record_id": "P0DPB6-1",
            "evidence": [
                {
                    "id": "613717",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613717"
                },
                {
                    "id": "0080790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28000-1",
            "uniprot_ac": "P28000",
            "uniprot_id": "RPAC2_YEAST",
            "refseq_ac": "NP_014286",
            "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 polymerases I and III subunit RPAC2",
                    "type": "recommended"
                },
                {
                    "name": "AC19",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase core subunit RPC19",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerases I and III 16 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerases I and III subunit AC2",
                    "type": "synonym"
                },
                {
                    "name": "RPA19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPC19",
                    "type": "recommended"
                },
                {
                    "name": "N1937",
                    "type": "synonym"
                },
                {
                    "name": "RPC19",
                    "type": "synonym"
                }
            ],
            "record_id": "P28000-1",
            "evidence": [
                {
                    "id": "0080790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07703-1",
            "uniprot_ac": "P07703",
            "uniprot_id": "RPAC1_YEAST",
            "refseq_ac": "NP_015435",
            "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 polymerases I and III subunit RPAC1",
                    "type": "recommended"
                },
                {
                    "name": "AC40",
                    "type": "synonym"
                },
                {
                    "name": "C37",
                    "type": "synonym"
                },
                {
                    "name": "C40",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase core subunit RPC40",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerases I and III 40 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerases I and III subunit AC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPC40",
                    "type": "recommended"
                },
                {
                    "name": "P8283.18",
                    "type": "synonym"
                },
                {
                    "name": "RPC40",
                    "type": "synonym"
                },
                {
                    "name": "RPC5",
                    "type": "synonym"
                }
            ],
            "record_id": "P07703-1",
            "evidence": [
                {
                    "id": "0080790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AK96-1",
            "uniprot_ac": "A0A8I6AK96",
            "uniprot_id": "A0A8I6AK96_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": "DNA-directed RNA polymerases I and III subunit RPAC2",
                    "type": "recommended"
                },
                {
                    "name": "AC19",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit D",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I 16 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr1d",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AK96-1",
            "evidence": [
                {
                    "id": "0080790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIZ0-1",
            "uniprot_ac": "Q9VIZ0",
            "uniprot_id": "RPAC2_DROME",
            "refseq_ac": "NP_609950",
            "glycoprotein": "no",
            "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 polymerases I and III subunit RPAC2",
                    "type": "recommended"
                },
                {
                    "name": "AC19",
                    "type": "synonym"
                },
                {
                    "name": "CG10685-PA",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase I subunit D",
                    "type": "synonym"
                },
                {
                    "name": "Polr1D-PA",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I and III subunit D, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I and III subunit D",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerases I and III subunit AC2",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 37Cg",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr1D",
                    "type": "recommended"
                },
                {
                    "name": "AC19",
                    "type": "synonym"
                },
                {
                    "name": "CG10685",
                    "type": "synonym"
                },
                {
                    "name": "Cg",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10685",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10685",
                    "type": "synonym"
                },
                {
                    "name": "Polr1D",
                    "type": "synonym"
                },
                {
                    "name": "RPC19",
                    "type": "synonym"
                },
                {
                    "name": "l(2)37Cg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIZ0-1",
            "evidence": [
                {
                    "id": "0080790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080790"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080790"
}