{
    "disease_id": "DOID:0060399",
    "recommended_name": {
        "id": "DOID:0060399",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060399",
        "name": "chromosome 16p12.1 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects."
    },
    "synonyms": [
        {
            "id": "MONDO:0007631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007631",
            "name": "chromosome 16p12.1 deletion syndrome, 520kb",
            "description": "A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects."
        },
        {
            "id": "MONDO:0007631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007631",
            "name": "Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)",
            "description": ""
        },
        {
            "id": "MONDO:0007631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007631",
            "name": "chromosome 16p12.1 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007631",
            "name": "chromosome 16p12.1 deletion syndrome, type 520kb",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060399"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060399",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060399",
            "categories": []
        },
        {
            "id": "MONDO:0007631",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007631",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R866-1",
            "uniprot_ac": "F1R866",
            "uniprot_id": "F1R866_DANRE",
            "refseq_ac": "XP_005169485",
            "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 polymerase III subunit RPC5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "polr3e",
                    "type": "recommended"
                },
                {
                    "name": "Sin",
                    "type": "synonym"
                },
                {
                    "name": "polr3e",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb12d10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fs42e03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55592",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R866-1",
            "evidence": [
                {
                    "id": "0060399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0D289-1",
            "uniprot_ac": "Q0D289",
            "uniprot_id": "MOSMO_DANRE",
            "refseq_ac": "NP_001070129",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Modulator of smoothened protein",
                    "type": "recommended"
                },
                {
                    "name": "Attenuator of hedgehog",
                    "type": "synonym"
                },
                {
                    "name": "attenuator of hedgehog",
                    "type": "synonym"
                },
                {
                    "name": "modulator of smoothened protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "modulator of smoothened protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C16orf52 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mosmob",
                    "type": "recommended"
                },
                {
                    "name": "mosmob",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153595",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0D289-1",
            "evidence": [
                {
                    "id": "0060399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CZT4-1",
            "uniprot_ac": "Q9CZT4",
            "uniprot_id": "RPC5_MOUSE",
            "refseq_ac": "NP_001157568",
            "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 III subunit RPC5",
                    "type": "recommended"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC5",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III polypeptide E",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C5",
                    "type": "synonym"
                },
                {
                    "name": "Sex-lethal interactor homolog",
                    "type": "synonym"
                },
                {
                    "name": "Sxl interactor",
                    "type": "synonym"
                },
                {
                    "name": "sex-lethal interactor homolog",
                    "type": "synonym"
                },
                {
                    "name": "sxl interactor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr3e",
                    "type": "recommended"
                },
                {
                    "name": "Polr3e",
                    "type": "synonym"
                },
                {
                    "name": "RPC5",
                    "type": "synonym"
                },
                {
                    "name": "Sin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CZT4-1",
            "evidence": [
                {
                    "id": "0060399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DB77-1",
            "uniprot_ac": "Q9DB77",
            "uniprot_id": "QCR2_MOUSE",
            "refseq_ac": "NP_080175",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome b-c1 complex subunit 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Core protein II",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome-c reductase complex core protein 2",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "core protein II",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 2, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome-c reductase complex core protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uqcrc2",
                    "type": "recommended"
                },
                {
                    "name": "1500004O06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Uqcrc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DB77-1",
            "evidence": [
                {
                    "id": "0060399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C784-1",
            "uniprot_ac": "Q8C784",
            "uniprot_id": "MOSMO_MOUSE",
            "refseq_ac": "NP_001158052",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Modulator of smoothened protein",
                    "type": "recommended"
                },
                {
                    "name": "Attenuator of Hedgehog",
                    "type": "synonym"
                },
                {
                    "name": "Attenuator of hedgehog",
                    "type": "synonym"
                },
                {
                    "name": "modulator of smoothened protein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "modulator of smoothened protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C16orf52 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mosmo",
                    "type": "recommended"
                },
                {
                    "name": "Atthog",
                    "type": "synonym"
                },
                {
                    "name": "BC030336",
                    "type": "synonym"
                },
                {
                    "name": "Mosmo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C784-1",
            "evidence": [
                {
                    "id": "0060399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07257-1",
            "uniprot_ac": "P07257",
            "uniprot_id": "QCR2_YEAST",
            "refseq_ac": "NP_015517",
            "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": "Cytochrome b-c1 complex subunit 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Core protein II",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c oxidoreductase core protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol--cytochrome-c reductase subunit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "QCR2",
                    "type": "recommended"
                },
                {
                    "name": "COR2",
                    "type": "synonym"
                },
                {
                    "name": "P9677.6",
                    "type": "synonym"
                },
                {
                    "name": "QCR2",
                    "type": "synonym"
                },
                {
                    "name": "UCR2",
                    "type": "synonym"
                }
            ],
            "record_id": "P07257-1",
            "evidence": [
                {
                    "id": "0060399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36121-1",
            "uniprot_ac": "P36121",
            "uniprot_id": "RPC5_YEAST",
            "refseq_ac": "NP_012950",
            "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 III subunit RPC5",
                    "type": "recommended"
                },
                {
                    "name": "DNA-directed RNA polymerase III 37 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit C37",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C37",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPC37",
                    "type": "recommended"
                },
                {
                    "name": "RPC37",
                    "type": "synonym"
                }
            ],
            "record_id": "P36121-1",
            "evidence": [
                {
                    "id": "0060399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZP45-1",
            "uniprot_ac": "D3ZP45",
            "uniprot_id": "D3ZP45_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": "RNA polymerase III subunit E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr3e",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZP45-1",
            "evidence": [
                {
                    "id": "0060399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32551-1",
            "uniprot_ac": "P32551",
            "uniprot_id": "QCR2_RAT",
            "refseq_ac": "NP_001006971",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome b-c1 complex subunit 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Core protein II",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome-c reductase complex core protein 2",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "core protein II",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 2, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome C reductase complex core protein 2, mitochondrial precursor (Complex III subunit II)",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase core protein II",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome-c reductase complex core protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uqcrc2",
                    "type": "recommended"
                },
                {
                    "name": "Uqcrc2",
                    "type": "synonym"
                }
            ],
            "record_id": "P32551-1",
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                {
                    "id": "0060399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A5P2-1",
            "uniprot_ac": "A0A8I6A5P2",
            "uniprot_id": "A0A8I6A5P2_RAT",
            "refseq_ac": "NP_001388691",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Modulator of smoothened protein",
                    "type": "recommended"
                },
                {
                    "name": "Attenuator of hedgehog",
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                },
                {
                    "name": "modulator of smoothened protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C16orf52 homolog",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Mosmo",
                    "type": "recommended"
                },
                {
                    "name": "Mosmo",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A5P2-1",
            "evidence": [
                {
                    "id": "0060399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW61-1",
            "uniprot_ac": "Q9VW61",
            "uniprot_id": "Q9VW61_DROME",
            "refseq_ac": "NP_001262082",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14182-PB",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG14182",
                    "type": "recommended"
                },
                {
                    "name": "CG14182",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14182",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14182",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW61-1",
            "evidence": [
                {
                    "id": "0060399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VP85-1",
            "uniprot_ac": "Q9VP85",
            "uniprot_id": "Q9VP85_DROME",
            "refseq_ac": "NP_524192",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10582-PA",
                    "type": "synonym"
                },
                {
                    "name": "Polr3E-PA",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit E, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Sex-lethal interactor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr3E",
                    "type": "recommended"
                },
                {
                    "name": "CG10582",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10582",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10582",
                    "type": "synonym"
                },
                {
                    "name": "Polr3E",
                    "type": "synonym"
                },
                {
                    "name": "RPC37",
                    "type": "synonym"
                },
                {
                    "name": "Sin",
                    "type": "synonym"
                },
                {
                    "name": "sin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VP85-1",
            "evidence": [
                {
                    "id": "0060399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VV75-1",
            "uniprot_ac": "Q9VV75",
            "uniprot_id": "Q9VV75_DROME",
            "refseq_ac": "NP_001261955",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "BEST:GH10978",
                    "type": "synonym"
                },
                {
                    "name": "CG4169-PB",
                    "type": "synonym"
                },
                {
                    "name": "UQCR-C2-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome C reductase complex core protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c oxidoreductase core protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase core protein 2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase core protein 2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase core protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UQCR-C2",
                    "type": "recommended"
                },
                {
                    "name": "BEST:GH10978",
                    "type": "synonym"
                },
                {
                    "name": "CG 4169",
                    "type": "synonym"
                },
                {
                    "name": "CG4169",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4169",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4169",
                    "type": "synonym"
                },
                {
                    "name": "UCR2",
                    "type": "synonym"
                },
                {
                    "name": "UQCR-C2",
                    "type": "synonym"
                },
                {
                    "name": "UQCR-cp2",
                    "type": "synonym"
                },
                {
                    "name": "UQCRC2",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey245",
                    "type": "synonym"
                },
                {
                    "name": "dUQCRC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VV75-1",
            "evidence": [
                {
                    "id": "0060399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NVU0-1",
            "uniprot_ac": "Q9NVU0",
            "uniprot_id": "RPC5_HUMAN",
            "refseq_ac": "NP_001244962",
            "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 III subunit RPC5",
                    "type": "recommended"
                },
                {
                    "name": "DNA-directed RNA polymerase III 80 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC5",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III 80 kDa subunit RPC5",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C5",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) III (DNA directed) polypeptide E (80kD)",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) III subunit E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POLR3E",
                    "type": "recommended"
                },
                {
                    "name": "C37",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1452",
                    "type": "synonym"
                },
                {
                    "name": "POLR3E",
                    "type": "synonym"
                },
                {
                    "name": "RPC5",
                    "type": "synonym"
                },
                {
                    "name": "SIN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NVU0-1",
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                {
                    "id": "0060399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22695-1",
            "uniprot_ac": "P22695",
            "uniprot_id": "QCR2_HUMAN",
            "refseq_ac": "NP_003357",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome b-c1 complex subunit 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Core protein II",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome-c reductase complex core protein 2",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 2, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome bc-1 complex core protein II",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase core protein II",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome-c reductase complex core protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UQCRC2",
                    "type": "recommended"
                },
                {
                    "name": "MC3DN5",
                    "type": "synonym"
                },
                {
                    "name": "QCR2",
                    "type": "synonym"
                },
                {
                    "name": "UQCR2",
                    "type": "synonym"
                },
                {
                    "name": "UQCRC2",
                    "type": "synonym"
                }
            ],
            "record_id": "P22695-1",
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                {
                    "id": "0060399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NHV5-1",
            "uniprot_ac": "Q8NHV5",
            "uniprot_id": "MOSMO_HUMAN",
            "refseq_ac": "NP_001158051",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Modulator of smoothened protein",
                    "type": "recommended"
                },
                {
                    "name": "Attenuator of Hedgehog",
                    "type": "synonym"
                },
                {
                    "name": "Attenuator of hedgehog",
                    "type": "synonym"
                },
                {
                    "name": "modulator of smoothened protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "modulator of smoothened protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C16orf52",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MOSMO",
                    "type": "recommended"
                },
                {
                    "name": "ATTHOG",
                    "type": "synonym"
                },
                {
                    "name": "BC030336",
                    "type": "synonym"
                },
                {
                    "name": "C16orf52",
                    "type": "synonym"
                },
                {
                    "name": "MOSMO",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NHV5-1",
            "evidence": [
                {
                    "id": "0060399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060399"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060399"
}