{
    "disease_id": "DOID:0080027",
    "recommended_name": {
        "id": "DOID:0080027",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080027",
        "name": "spondyloepimetaphyseal dysplasia",
        "description": "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0050812",
            "label": "spondyloepimetaphyseal dysplasia, Pakistani type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0051046",
            "label": "spondyloepimetaphyseal dysplasia, Li-Shao-Li type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060490",
            "label": "Schimke immuno-osseous dysplasia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080028",
            "label": "spondyloepimetaphyseal dysplasia, Strudwick type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080030",
            "label": "spondyloepimetaphyseal dysplasia, Missouri type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080576",
            "label": "spondyloepimetaphyseal dysplasia, Genevieve-type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080942",
            "label": "anauxetic dysplasia",
            "link_status": false,
            "children": [
                {
                    "id": "DOID:0080962",
                    "label": "anauxetic dysplasia 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080963",
                    "label": "anauxetic dysplasia 3",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0111167",
            "label": "Dyggve-Melchior-Clausen disease",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0060247",
                    "label": "Smith-McCort dysplasia",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0081270",
                            "label": "Smith-McCort dysplasia 1",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0081271",
                            "label": "Smith-McCort dysplasia 2",
                            "link_status": true,
                            "children": []
                        }
                    ]
                }
            ]
        },
        {
            "id": "DOID:0111514",
            "label": "metatropic dysplasia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112150",
            "label": "X-linked spondyloepimetaphyseal dysplasia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112196",
            "label": "spondylometaepiphyseal dysplasia, short limb-hand type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112197",
            "label": "spondyloepimetaphyseal dysplasia with joint laxity",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0112198",
                    "label": "spondyloepimetaphyseal dysplasia with joint laxity type 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112199",
                    "label": "spondyloepimetaphyseal dysplasia with joint laxity type 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112200",
                    "label": "spondyloepimetaphyseal dysplasia with joint laxity type 3",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:5684",
            "label": "spondyloepimetaphyseal dysplasia, Sponastrime type",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111167",
        "DOID:0081271",
        "DOID:0111514",
        "DOID:0080963",
        "DOID:0112196",
        "DOID:0112198",
        "DOID:0080028",
        "DOID:0080962",
        "DOID:0080027",
        "DOID:0060490",
        "DOID:0080576",
        "DOID:0080030",
        "DOID:0112200",
        "DOID:0112197",
        "DOID:0112199",
        "DOID:0080942",
        "DOID:0081270",
        "DOID:0050812",
        "DOID:0051046",
        "DOID:5684",
        "DOID:0112150",
        "DOID:0060247"
    ],
    "unlinked_id_list": [
        "DOID:0080942"
    ],
    "crossref": [
        {
            "id": "DOID:0080027",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080027",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q90Z10-1",
            "uniprot_ac": "Q90Z10",
            "uniprot_id": "RL13_DANRE",
            "refseq_ac": "NP_937786",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL13",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L13",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rpl13",
                    "type": "recommended"
                },
                {
                    "name": "rpl13",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92272",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90Z10-1",
            "evidence": [
                {
                    "id": "0080027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28481-3",
            "uniprot_ac": "P28481",
            "uniprot_id": "CO2A1_MOUSE",
            "refseq_ac": "NP_001106987",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(II) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 type II collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 type II collagen",
                    "type": "synonym"
                },
                {
                    "name": "chondrocalcin",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(II) chain isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type II, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col2a1",
                    "type": "recommended"
                },
                {
                    "name": "Col2a-1",
                    "type": "synonym"
                },
                {
                    "name": "Col2a1",
                    "type": "synonym"
                },
                {
                    "name": "Col2a",
                    "type": "synonym"
                },
                {
                    "name": "Col2",
                    "type": "synonym"
                },
                {
                    "name": "Del1",
                    "type": "synonym"
                },
                {
                    "name": "Dmm",
                    "type": "synonym"
                },
                {
                    "name": "Lpk",
                    "type": "synonym"
                },
                {
                    "name": "M100413",
                    "type": "synonym"
                },
                {
                    "name": "Rgsc413",
                    "type": "synonym"
                },
                {
                    "name": "Rgsc856",
                    "type": "synonym"
                }
            ],
            "record_id": "P28481-3",
            "evidence": [
                {
                    "id": "0080027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47963-1",
            "uniprot_ac": "P47963",
            "uniprot_id": "RL13_MOUSE",
            "refseq_ac": "NP_058018",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL13",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L13",
                    "type": "synonym"
                },
                {
                    "name": "A52",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl13",
                    "type": "recommended"
                },
                {
                    "name": "A52",
                    "type": "synonym"
                },
                {
                    "name": "L13",
                    "type": "synonym"
                },
                {
                    "name": "Rpl13",
                    "type": "synonym"
                }
            ],
            "record_id": "P47963-1",
            "evidence": [
                {
                    "id": "0080027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40212-1",
            "uniprot_ac": "P40212",
            "uniprot_id": "RL13B_YEAST",
            "refseq_ac": "NP_013862",
            "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": "Large ribosomal subunit protein eL13B",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L13-B",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein eL13 RPL13B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL13B",
                    "type": "recommended"
                },
                {
                    "name": "RPL13B",
                    "type": "synonym"
                },
                {
                    "name": "RPL13",
                    "type": "synonym"
                },
                {
                    "name": "YM9375.11C",
                    "type": "synonym"
                }
            ],
            "record_id": "P40212-1",
            "evidence": [
                {
                    "id": "0080027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12690-1",
            "uniprot_ac": "Q12690",
            "uniprot_id": "RL13A_YEAST",
            "refseq_ac": "NP_010201",
            "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": "Large ribosomal subunit protein eL13A",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L13-A",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein eL13 RPL13A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL13A",
                    "type": "recommended"
                },
                {
                    "name": "RPL13A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12690-1",
            "evidence": [
                {
                    "id": "0080027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41123-1",
            "uniprot_ac": "P41123",
            "uniprot_id": "RL13_RAT",
            "refseq_ac": "NP_112363",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL13",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L13",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl13",
                    "type": "recommended"
                },
                {
                    "name": "Rpl13",
                    "type": "synonym"
                }
            ],
            "record_id": "P41123-1",
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                {
                    "id": "0080027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M2E9-1",
            "uniprot_ac": "F1M2E9",
            "uniprot_id": "F1M2E9_RAT",
            "refseq_ac": "XP_038948683",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "60S ribosomal protein L13",
                    "type": "recommended"
                },
                {
                    "name": "large ribosomal subunit protein eL13-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC100360491",
                    "type": "recommended"
                },
                {
                    "name": "LOC100361259",
                    "type": "recommended"
                },
                {
                    "name": "LOC100361259",
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                }
            ],
            "record_id": "F1M2E9-1",
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                {
                    "id": "0080027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05539-1",
            "uniprot_ac": "P05539",
            "uniprot_id": "CO2A1_RAT",
            "refseq_ac": "NP_037061",
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            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(II) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 type II collagen",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen II alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 type II collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(II) chain isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(II) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen type II (Col2A1) gene, enhancer region",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type II, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type II, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col2a1",
                    "type": "recommended"
                },
                {
                    "name": "CG2A1A",
                    "type": "synonym"
                },
                {
                    "name": "COLLII",
                    "type": "synonym"
                },
                {
                    "name": "Col2a1",
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            ],
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                {
                    "id": "0080027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53563-1",
            "uniprot_ac": "P53563",
            "uniprot_id": "B2CL1_RAT",
            "refseq_ac": "NP_001028842",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bcl-2-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Apoptosis regulator Bcl-X",
                    "type": "synonym"
                },
                {
                    "name": "B cell lymphoma 2 like",
                    "type": "synonym"
                },
                {
                    "name": "B cell lymphoma like X",
                    "type": "synonym"
                },
                {
                    "name": "Bcl2-L-1",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis regulator Bcl-X",
                    "type": "synonym"
                },
                {
                    "name": "bcl-2-like protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "bcl-2-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "bcl2-L-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcl2l1",
                    "type": "recommended"
                },
                {
                    "name": "AC098008.1",
                    "type": "synonym"
                },
                {
                    "name": "Bcl-xl",
                    "type": "synonym"
                },
                {
                    "name": "Bcl2l1",
                    "type": "synonym"
                },
                {
                    "name": "Bcl2l",
                    "type": "synonym"
                },
                {
                    "name": "Bclx",
                    "type": "synonym"
                },
                {
                    "name": "Blc2l",
                    "type": "synonym"
                },
                {
                    "name": "bcl-X",
                    "type": "synonym"
                }
            ],
            "record_id": "P53563-1",
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                {
                    "id": "0080027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41126-1",
            "uniprot_ac": "P41126",
            "uniprot_id": "RL13_DROME",
            "refseq_ac": "NP_001033891",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL13",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L13",
                    "type": "synonym"
                },
                {
                    "name": "BBC1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "CG4651-PB",
                    "type": "synonym"
                },
                {
                    "name": "RpL13-PB",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-1D1",
                    "type": "synonym"
                },
                {
                    "name": "r-protein L13",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein L13, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpL13",
                    "type": "recommended"
                },
                {
                    "name": "Bbc1",
                    "type": "synonym"
                },
                {
                    "name": "CG4651",
                    "type": "synonym"
                },
                {
                    "name": "Dmbbc1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4651",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4651",
                    "type": "synonym"
                },
                {
                    "name": "L13e",
                    "type": "synonym"
                },
                {
                    "name": "L13",
                    "type": "synonym"
                },
                {
                    "name": "RPL13",
                    "type": "synonym"
                },
                {
                    "name": "Rp L13",
                    "type": "synonym"
                },
                {
                    "name": "RpL13",
                    "type": "synonym"
                },
                {
                    "name": "Rpl13",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe1D1",
                    "type": "synonym"
                },
                {
                    "name": "bbc1",
                    "type": "synonym"
                },
                {
                    "name": "rpL13",
                    "type": "synonym"
                }
            ],
            "record_id": "P41126-1",
            "evidence": [
                {
                    "id": "0080027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NVC6-1",
            "uniprot_ac": "Q9NVC6",
            "uniprot_id": "MED17_HUMAN",
            "refseq_ac": "NP_004259",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 17",
                    "type": "recommended"
                },
                {
                    "name": "ARC77",
                    "type": "synonym"
                },
                {
                    "name": "Activator-recruited cofactor 77 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "CRSP complex subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "Cofactor required for Sp1 transcriptional activation subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "DRIP80",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 17",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor-associated protein complex 80 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional coactivator CRSP77",
                    "type": "synonym"
                },
                {
                    "name": "Trap80",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin D3 receptor-interacting protein complex 80 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "activator-recruited cofactor 77 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 17",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor-associated protein complex 80 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional coactivator CRSP77",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor-interacting protein complex 80 kDa component",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MED17",
                    "type": "recommended"
                },
                {
                    "name": "ARC77",
                    "type": "synonym"
                },
                {
                    "name": "CRSP6",
                    "type": "synonym"
                },
                {
                    "name": "CRSP77",
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                },
                {
                    "name": "DRIP77",
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                },
                {
                    "name": "DRIP80",
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                },
                {
                    "name": "MED17",
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                },
                {
                    "name": "SRB4",
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                },
                {
                    "name": "TRAP80",
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                }
            ],
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                {
                    "id": "0080027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26373-1",
            "uniprot_ac": "P26373",
            "uniprot_id": "RL13_HUMAN",
            "refseq_ac": "NP_000968",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL13",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L13",
                    "type": "synonym"
                },
                {
                    "name": "Breast basic conserved protein 1",
                    "type": "synonym"
                },
                {
                    "name": "breast basic conserved 1",
                    "type": "synonym"
                },
                {
                    "name": "breast basic conserved protein 1",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL13 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL13",
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                }
            ],
            "gene_names": [
                {
                    "name": "RPL13",
                    "type": "recommended"
                },
                {
                    "name": "BBC1",
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                },
                {
                    "name": "D16S444E",
                    "type": "synonym"
                },
                {
                    "name": "D16S44E",
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                },
                {
                    "name": "L13",
                    "type": "synonym"
                },
                {
                    "name": "RPL13",
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                },
                {
                    "name": "SEMDIST",
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                },
                {
                    "name": "SW-cl.46",
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                },
                {
                    "name": "eL13",
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                }
            ],
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                    "id": "0080027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02458-2",
            "uniprot_ac": "P02458",
            "uniprot_id": "CO2A1_HUMAN",
            "refseq_ac": "NP_001835",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(II) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 type II collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 type II collagen",
                    "type": "synonym"
                },
                {
                    "name": "arthroophthalmopathy, progressive (Stickler syndrome)",
                    "type": "synonym"
                },
                {
                    "name": "cartilage collagen",
                    "type": "synonym"
                },
                {
                    "name": "chondrocalcin",
                    "type": "synonym"
                },
                {
                    "name": "collagen II, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(II) chain isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(II) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type II, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL2A1",
                    "type": "recommended"
                },
                {
                    "name": "ACG2",
                    "type": "synonym"
                },
                {
                    "name": "ANFH1",
                    "type": "synonym"
                },
                {
                    "name": "ANFH",
                    "type": "synonym"
                },
                {
                    "name": "AOM",
                    "type": "synonym"
                },
                {
                    "name": "COL11A3",
                    "type": "synonym"
                },
                {
                    "name": "COL2A1",
                    "type": "synonym"
                },
                {
                    "name": "EDMMD",
                    "type": "synonym"
                },
                {
                    "name": "LCPD",
                    "type": "synonym"
                },
                {
                    "name": "OSCDP",
                    "type": "synonym"
                },
                {
                    "name": "PLSDT",
                    "type": "synonym"
                },
                {
                    "name": "SEDC",
                    "type": "synonym"
                },
                {
                    "name": "SEDSTN",
                    "type": "synonym"
                },
                {
                    "name": "SEMDSTWK",
                    "type": "synonym"
                },
                {
                    "name": "SMDALG",
                    "type": "synonym"
                },
                {
                    "name": "STL1",
                    "type": "synonym"
                },
                {
                    "name": "VPED",
                    "type": "synonym"
                }
            ],
            "record_id": "P02458-2",
            "evidence": [
                {
                    "id": "0080027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080027"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080027"
}