{
    "disease_id": "DOID:0112201",
    "recommended_name": {
        "id": "DOID:0112201",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112201",
        "name": "osteogenesis imperfecta type 21",
        "description": "An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112201",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112201",
            "name": "OI21",
            "description": ""
        },
        {
            "id": "DOID:0112201",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112201",
            "name": "osteogenesis imperfecta type XXI",
            "description": ""
        },
        {
            "id": "MONDO:0030861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030861",
            "name": "osteogenesis imperfecta, type 21",
            "description": ""
        },
        {
            "id": "MONDO:0030861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030861",
            "name": "OI21",
            "description": ""
        },
        {
            "id": "MONDO:0030861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030861",
            "name": "osteogenesis imperfecta 21",
            "description": ""
        },
        {
            "id": "MONDO:0030861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030861",
            "name": "osteogenesis imperfecta, TYPE XXI",
            "description": ""
        },
        {
            "id": "MIM:619131",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619131",
            "name": "Osteogenesis imperfecta 21",
            "description": "Osteogenesis imperfecta 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112201"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112201",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112201",
            "categories": []
        },
        {
            "id": "MONDO:0030861",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030861",
            "categories": []
        },
        {
            "id": "MIM:619131",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619131",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PEH1-1",
            "uniprot_ac": "Q6PEH1",
            "uniprot_id": "ERD22_DANRE",
            "refseq_ac": "NP_956397",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ER lumen protein-retaining receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "ER lumen protein-retaining receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2a",
                    "type": "synonym"
                },
                {
                    "name": "KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "KDEL endoplasmic reticulum protein retention receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "KDEL receptor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kdelr2",
                    "type": "recommended"
                },
                {
                    "name": "cb768",
                    "type": "synonym"
                },
                {
                    "name": "kdelr2a",
                    "type": "synonym"
                },
                {
                    "name": "kdelr2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa11g06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi21a12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63777",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PEH1-1",
            "evidence": [
                {
                    "id": "0112201",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112201"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQM2-1",
            "uniprot_ac": "Q9CQM2",
            "uniprot_id": "ERD22_MOUSE",
            "refseq_ac": "NP_080117",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ER lumen protein-retaining receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "ER lumen protein-retaining receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "KDEL endoplasmic reticulum protein retention receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "KDEL receptor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kdelr2",
                    "type": "recommended"
                },
                {
                    "name": "1110007A14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kdelr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQM2-1",
            "evidence": [
                {
                    "id": "0112201",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112201"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33947-1",
            "uniprot_ac": "P33947",
            "uniprot_id": "ERD22_HUMAN",
            "refseq_ac": "NP_001094073",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ER lumen protein-retaining receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "(Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "ELP-1",
                    "type": "synonym"
                },
                {
                    "name": "ER lumen protein-retaining receptor 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ER lumen protein-retaining receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "ERD-2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "ERD2-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "KDEL endoplasmic reticulum protein retention receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "KDEL receptor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KDELR2",
                    "type": "recommended"
                },
                {
                    "name": "ELP-1",
                    "type": "synonym"
                },
                {
                    "name": "ERD2.2",
                    "type": "synonym"
                },
                {
                    "name": "KDELR2",
                    "type": "synonym"
                },
                {
                    "name": "OI21",
                    "type": "synonym"
                }
            ],
            "record_id": "P33947-1",
            "evidence": [
                {
                    "id": "619131",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619131"
                },
                {
                    "id": "0112201",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112201"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18414-1",
            "uniprot_ac": "P18414",
            "uniprot_id": "ERD2_YEAST",
            "refseq_ac": "NP_009513",
            "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": "ER lumen protein-retaining receptor",
                    "type": "recommended"
                },
                {
                    "name": "Endoplasmic reticulum retention defective protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Erd2p",
                    "type": "synonym"
                },
                {
                    "name": "HDEL receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERD2",
                    "type": "recommended"
                },
                {
                    "name": "ERD2",
                    "type": "synonym"
                },
                {
                    "name": "YBL0408",
                    "type": "synonym"
                }
            ],
            "record_id": "P18414-1",
            "evidence": [
                {
                    "id": "0112201",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112201"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U305-1",
            "uniprot_ac": "Q5U305",
            "uniprot_id": "ERD22_RAT",
            "refseq_ac": "NP_001013140",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ER lumen protein-retaining receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "ER lumen protein-retaining receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "KDEL endoplasmic reticulum protein retention receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "KDEL receptor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kdelr2",
                    "type": "recommended"
                },
                {
                    "name": "Kdelr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U305-1",
            "evidence": [
                {
                    "id": "0112201",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112201"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O76767-1",
            "uniprot_ac": "O76767",
            "uniprot_id": "ERD2_DROME",
            "refseq_ac": "NP_477296",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ER lumen protein-retaining receptor",
                    "type": "recommended"
                },
                {
                    "name": "CG5183-PA",
                    "type": "synonym"
                },
                {
                    "name": "ER lumen protein retaining receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "KDEL receptor, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "KDEL-receptor",
                    "type": "synonym"
                },
                {
                    "name": "KdelR-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 31Em",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KdelR",
                    "type": "recommended"
                },
                {
                    "name": "BEST:CK00230",
                    "type": "synonym"
                },
                {
                    "name": "CG5183",
                    "type": "synonym"
                },
                {
                    "name": "CK00230",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5183",
                    "type": "synonym"
                },
                {
                    "name": "ERD2",
                    "type": "synonym"
                },
                {
                    "name": "Erd2",
                    "type": "synonym"
                },
                {
                    "name": "KdelR",
                    "type": "synonym"
                },
                {
                    "name": "Kdel",
                    "type": "synonym"
                },
                {
                    "name": "dKDELR",
                    "type": "synonym"
                },
                {
                    "name": "dmErd2",
                    "type": "synonym"
                },
                {
                    "name": "l(2)31Em",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k00311",
                    "type": "synonym"
                }
            ],
            "record_id": "O76767-1",
            "evidence": [
                {
                    "id": "0112201",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112201"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112201"
}