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        "title": "Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.",
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        "authors": "Nuytinck L, Freund M, Lagae L, Pierard GE, Hermanns-Le T, De Paepe A",
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                                "url": "https://www.omim.org/entry/130060",
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                            "url": "https://disease-ontology.org/term/DOID:13359",
                            "name": "Ehlers-Danlos syndrome",
                            "description": "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules."
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                                "name": "Cutis hyperelastica",
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                                "id": "DOID:13359",
                                "resource": "Disease Ontology",
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                            {
                                "id": "MONDO:0019567",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019567",
                                "name": "Ehlers-Danlos syndrome, classic type, 1",
                                "description": "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene."
                            },
                            {
                                "id": "MONDO:0019567",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019567",
                                "name": "EDS I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019567",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019567",
                                "name": "EDSCL1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019567",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019567",
                                "name": "Ehlers-Danlos syndrome, classic type, 1",
                                "description": ""
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                            {
                                "id": "MONDO:0019567",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019567",
                                "name": "Ehlers-Danlos syndrome, type I",
                                "description": ""
                            },
                            {
                                "id": "MIM:130000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/130000",
                                "name": "Ehlers-Danlos syndrome, classic type, 1",
                                "description": "Ehlers-Danlos syndrome, classic type, 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "13359",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:13359"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:14720",
                        "recommended_name": {
                            "id": "DOID:14720",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:14720",
                            "name": "Ehlers-Danlos syndrome classic type 1",
                            "description": "An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:14720",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14720",
                                "name": "Ehlers-Danlos syndrome, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:14720",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14720",
                                "name": "type I Ehlers-Danlos syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019567",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019567",
                                "name": "Ehlers-Danlos syndrome, classic type, 1",
                                "description": "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene."
                            },
                            {
                                "id": "MONDO:0019567",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019567",
                                "name": "EDS I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019567",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019567",
                                "name": "EDSCL1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019567",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019567",
                                "name": "Ehlers-Danlos syndrome, classic type, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019567",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019567",
                                "name": "Ehlers-Danlos syndrome, type I",
                                "description": ""
                            },
                            {
                                "id": "MIM:130000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/130000",
                                "name": "Ehlers-Danlos syndrome, classic type, 1",
                                "description": "Ehlers-Danlos syndrome, classic type, 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "14720",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14720"
                            },
                            {
                                "id": "14720",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14720"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4257",
                        "recommended_name": {
                            "id": "DOID:4257",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4257",
                            "name": "Caffey disease",
                            "description": "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4257",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4257",
                                "name": "cortical congenital hyperostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:4257",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4257",
                                "name": "infantile cortical hyperostosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007244",
                                "name": "Caffey disease",
                                "description": "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described."
                            },
                            {
                                "id": "MONDO:0007244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007244",
                                "name": "Caffey disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007244",
                                "name": "infantile cortical hyperostosis",
                                "description": ""
                            },
                            {
                                "id": "MIM:114000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114000",
                                "name": "Caffey disease",
                                "description": "Caffey disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "114000",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/114000"
                            },
                            {
                                "id": "4257",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4257"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0110334",
                        "recommended_name": {
                            "id": "DOID:0110334",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110334",
                            "name": "osteogenesis imperfecta type 1",
                            "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110334",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110334",
                                "name": "OI1",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110334",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110334",
                                "name": "osteogenesis imperfecta type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "osteogenesis imperfecta type 1",
                                "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures."
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "Adair-Dighton syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "COL1A1-related osteogenesis imperfecta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "OI type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "OI1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "Van der Hoeve syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "mild osteogenesis imperfecta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "non-deforming osteogenesis imperfecta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "osteogenesis imperfecta type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "osteogenesis imperfecta type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "classic non-deforming OI with blue sclerae",
                                "description": ""
                            },
                            {
                                "id": "MIM:166200",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/166200",
                                "name": "Osteogenesis imperfecta 1",
                                "description": "Osteogenesis imperfecta 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "166200",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/166200"
                            },
                            {
                                "id": "0110334",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110334"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:12347",
                        "recommended_name": {
                            "id": "DOID:12347",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12347",
                            "name": "osteogenesis imperfecta",
                            "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:12347",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12347",
                                "name": "Lobstein's syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:12347",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12347",
                                "name": "Osteopsathyrosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:12347",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12347",
                                "name": "Vrolik's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:12347",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12347",
                                "name": "brittle bone disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "osteogenesis imperfecta type 1",
                                "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures."
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "Adair-Dighton syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "COL1A1-related osteogenesis imperfecta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "OI type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "OI1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "Van der Hoeve syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "mild osteogenesis imperfecta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "non-deforming osteogenesis imperfecta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "osteogenesis imperfecta type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "osteogenesis imperfecta type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008146",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008146",
                                "name": "classic non-deforming OI with blue sclerae",
                                "description": ""
                            },
                            {
                                "id": "MIM:166200",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/166200",
                                "name": "Osteogenesis imperfecta 1",
                                "description": "Osteogenesis imperfecta 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "12347",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12347"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0110339",
                        "recommended_name": {
                            "id": "DOID:0110339",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110339",
                            "name": "osteogenesis imperfecta type 3",
                            "description": "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110339",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110339",
                                "name": "progressively deforming osteogenesis imperfecta with normal sclera",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110339",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110339",
                                "name": "OI3",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110339",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110339",
                                "name": "osteogenesis imperfecta type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009804",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009804",
                                "name": "osteogenesis imperfecta type 3",
                                "description": "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)."
                            },
                            {
                                "id": "MONDO:0009804",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009804",
                                "name": "OI type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009804",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009804",
                                "name": "OI3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009804",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009804",
                                "name": "osteogenesis imperfecta type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009804",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009804",
                                "name": "osteogenesis imperfecta type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009804",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009804",
                                "name": "progressive deforming osteogenesis imperfecta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009804",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009804",
                                "name": "severe osteogenesis imperfecta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009804",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009804",
                                "name": "OI type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009804",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009804",
                                "name": "osteogenesis imperfecta, progressively deforming with normal sclerae",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009804",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009804",
                                "name": "progressively deforming OI",
                                "description": ""
                            },
                            {
                                "id": "MIM:259420",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/259420",
                                "name": "Osteogenesis imperfecta 3",
                                "description": "Osteogenesis imperfecta 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0110339",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110339"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0110340",
                        "recommended_name": {
                            "id": "DOID:0110340",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110340",
                            "name": "osteogenesis imperfecta type 4",
                            "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110340",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110340",
                                "name": "OI4",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110340",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110340",
                                "name": "osteogenesis imperfecta type IV",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110340",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110340",
                                "name": "osteogenesis imperfecta with normal sclera",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008148",
                                "name": "osteogenesis imperfecta type 4",
                                "description": "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)."
                            },
                            {
                                "id": "MONDO:0008148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008148",
                                "name": "OI type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008148",
                                "name": "OI4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008148",
                                "name": "osteogenesis imperfecta type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008148",
                                "name": "OI type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008148",
                                "name": "common variable OI with normal sclerae",
                                "description": ""
                            },
                            {
                                "id": "MIM:166220",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/166220",
                                "name": "Osteogenesis imperfecta 4",
                                "description": "Osteogenesis imperfecta 4"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "166220",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/166220"
                            },
                            {
                                "id": "0110340",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110340"
                            },
                            {
                                "id": "0110340",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110340"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0110341",
                        "recommended_name": {
                            "id": "DOID:0110341",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110341",
                            "name": "osteogenesis imperfecta type 2",
                            "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110341",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110341",
                                "name": "OI2",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110341",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110341",
                                "name": "Vrolik type of osteogenesis imperfecta",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110341",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110341",
                                "name": "osteogenesis imperfecta type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110341",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110341",
                                "name": "perinatal lethal osteogenesis imperfecta congenita",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008147",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008147",
                                "name": "osteogenesis imperfecta type 2",
                                "description": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera."
                            },
                            {
                                "id": "MONDO:0008147",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008147",
                                "name": "OI type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008147",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008147",
                                "name": "OI2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008147",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008147",
                                "name": "Vrolik type of osteogenesis imperfecta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008147",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008147",
                                "name": "lethal osteogenesis imperfecta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008147",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008147",
                                "name": "osteogenesis imperfecta type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008147",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008147",
                                "name": "osteogenesis imperfecta type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008147",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008147",
                                "name": "Perinatally lethal OI",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008147",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008147",
                                "name": "osteogenesis imperfecta congenita perinatal lethal form",
                                "description": ""
                            },
                            {
                                "id": "MIM:166210",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/166210",
                                "name": "Osteogenesis imperfecta 2",
                                "description": "Osteogenesis imperfecta 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0110341",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110341"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:11476",
                        "recommended_name": {
                            "id": "DOID:11476",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:11476",
                            "name": "osteoporosis",
                            "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005298",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005298",
                                "name": "osteoporosis",
                                "description": "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)."
                            },
                            {
                                "id": "MONDO:0005298",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005298",
                                "name": "bone mineral density variation QTL, osteoporosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005298",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005298",
                                "name": "osteoporosis, postmenopausal",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005298",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005298",
                                "name": "osteoporosis, postmenopausal, susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005298",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005298",
                                "name": "osteoporosis, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MIM:166710",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/166710",
                                "name": "Osteoporosis",
                                "description": "Osteoporosis"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "11476",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11476"
                            }
                        ]
                    }
                ],
                "uniprot_canonical_ac": "P02452-1"
            }
        ],
        "record_id": "pubmed.10739762",
        "abstract": "",
        "glycosylation": [],
        "mutagenesis": [],
        "phosphorylation": [],
        "glycation": [],
        "section_stats": [
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                "table_id": "referenced_proteins",
                "table_stats": [
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            {
                "table_id": "glycosylation",
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                    },
                    {
                        "field": "n_linked_glycan_sites",
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            {
                "table_id": "phosphorylation",
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                ],
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            },
            {
                "table_id": "glycosylation_reported",
                "table_stats": [
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                    {
                        "field": "total_sites",
                        "count": 0
                    },
                    {
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                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
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                    },
                    {
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                        "count": 0
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                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported_with_glycan",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
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                    {
                        "field": "total_sites",
                        "count": 0
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                    {
                        "field": "n_linked_sites",
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                    },
                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
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                    {
                        "field": "n_linked_glycans",
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                    {
                        "field": "o_linked_glycans",
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                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_predicted",
                "table_stats": [
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                        "field": "total",
                        "count": 0
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                    {
                        "field": "total_sites",
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                    {
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                    {
                        "field": "o_linked_sites",
                        "count": 0
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                    {
                        "field": "n_linked_glycan_sites",
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                    {
                        "field": "o_linked_glycan_sites",
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                    {
                        "field": "o_linked_glycans",
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                ],
                "sort_fields": []
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            {
                "table_id": "glycosylation_automatic_literature_mining",
                "table_stats": [
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                        "field": "total",
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                        "count": 0
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                ],
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        ]
    },
    {
        "title": "Phosphoinositide 3-kinase forms a complex with platelet membrane glycoprotein Ib-IX-V complex and 14-3-3zeta.",
        "journal": "Blood",
        "date": "2000",
        "authors": "Munday AD, Berndt MC, Mitchell CA",
        "reference": {
            "type": "PubMed",
            "id": "10887121",
            "url": "https://pubmed.ncbi.nlm.nih.gov/10887121"
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        "referenced_glycans": [],
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            {
                "uniprot_canonical_ac": "P02452-1",
                "protein_name": "Collagen alpha-1(I) chain",
                "gene_name": "COL1A1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P07359-1",
                "protein_name": "Platelet glycoprotein Ib alpha chain",
                "gene_name": "GP1BA",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P13224-1",
                "protein_name": "Platelet glycoprotein Ib beta chain",
                "gene_name": "GP1BB",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P04275-1",
                "protein_name": "von Willebrand factor",
                "gene_name": "VWF",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P08123-1",
                "protein_name": "Collagen alpha-2(I) chain",
                "gene_name": "COL1A2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P21333-1",
                "protein_name": "Filamin-A",
                "gene_name": "FLNA",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P14770-1",
                "protein_name": "Platelet glycoprotein IX",
                "gene_name": "GP9",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P40197-1",
                "protein_name": "Platelet glycoprotein V",
                "gene_name": "GP5",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P27986-1",
                "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit alpha",
                "gene_name": "PIK3R1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P63104-1",
                "protein_name": "14-3-3 protein zeta/delta",
                "gene_name": "YWHAZ",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P04049-1",
                "protein_name": "RAF proto-oncogene serine/threonine-protein kinase",
                "gene_name": "RAF1",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P02452",
                        "url": "https://www.uniprot.org/uniprotkb/P02452"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "record_id": "pubmed.10887121",
        "abstract": "",
        "glycosylation": [],
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                ],
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            {
                "table_id": "glycosylation",
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    {
        "title": "A short sequence in the N-terminal region is required for the trimerization of type XIII collagen and is conserved in other collagenous transmembrane proteins.",
        "journal": "The EMBO journal",
        "date": "2000",
        "authors": "Snellman A, Tu H, Vaisanen T, Kvist AP, Huhtala P, Pihlajaniemi T",
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                "uniprot_canonical_ac": "P78536-1",
                "protein_name": "Disintegrin and metalloproteinase domain-containing protein 17",
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            {
                "uniprot_canonical_ac": "P07858-1",
                "protein_name": "Cathepsin B",
                "gene_name": "CTSB",
                "tax_name": "Human"
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                "uniprot_canonical_ac": "Q05707-1",
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                "gene_name": "COL14A1",
                "tax_name": "Human"
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            {
                "uniprot_canonical_ac": "P39059-1",
                "protein_name": "Collagen alpha-1(XV) chain",
                "gene_name": "COL15A1",
                "tax_name": "Human"
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                "uniprot_canonical_ac": "P53420-1",
                "protein_name": "Collagen alpha-4(IV) chain",
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                "protein_name": "Collagen alpha-1(XXIII) chain",
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                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P08246-1",
                "protein_name": "Neutrophil elastase",
                "gene_name": "ELANE",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P09958-1",
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                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P12107-1",
                "protein_name": "Collagen alpha-1(XI) chain",
                "gene_name": "COL11A1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q96A83-1",
                "protein_name": "Collagen alpha-1(XXVI) chain",
                "gene_name": "COL26A1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q14993-1",
                "protein_name": "Collagen alpha-1(XIX) chain",
                "gene_name": "COL19A1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P03956-1",
                "protein_name": "Interstitial collagenase",
                "gene_name": "MMP1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P39900-1",
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        "title": "G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha1(I) chain and alters folding of the N-terminal end of the helix.",
        "journal": "Molecular genetics and metabolism",
        "date": "2001-04",
        "authors": "Cabral W A, Chernoff E J, Marini J C",
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                "minor_allelic_frequency": "",
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                                "description": "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)."
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        "title": "Successful aortic valve  replacement for aortic regurgitation associated with osteogenesis imperfecta.",
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        "title": "Calprotectin inhibits matrix metalloproteinases by sequestration of zinc.",
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