{
    "disease_id": "DOID:0060849",
    "recommended_name": {
        "id": "DOID:0060849",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060849",
        "name": "osteoporosis-pseudoglioma syndrome",
        "description": "A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060849",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060849",
            "name": "OPPG",
            "description": ""
        },
        {
            "id": "DOID:0060849",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060849",
            "name": "ocular form of osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0009820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "name": "osteoporosis-pseudoglioma syndrome",
            "description": "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures."
        },
        {
            "id": "MONDO:0009820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "name": "OPPG",
            "description": ""
        },
        {
            "id": "MONDO:0009820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "name": "osteoporosis-pseudoglioma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "name": "osteogenesis imperfecta ocular form",
            "description": ""
        },
        {
            "id": "MONDO:0009820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "name": "osteoporosis pseudoglioma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "name": "pseudoglioma with bone fragility",
            "description": ""
        },
        {
            "id": "MIM:259770",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/259770",
            "name": "Osteoporosis-pseudoglioma syndrome",
            "description": "Osteoporosis-pseudoglioma syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060849"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060849",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060849",
            "categories": []
        },
        {
            "id": "MONDO:0009820",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009820",
            "categories": []
        },
        {
            "id": "MIM:259770",
            "database": "MIM",
            "url": "https://www.omim.org/entry/259770",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QTJ4-1",
            "uniprot_ac": "F1QTJ4",
            "uniprot_id": "F1QTJ4_DANRE",
            "refseq_ac": "NP_001170929",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 5 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 5 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lrp5",
                    "type": "recommended"
                },
                {
                    "name": "LRP6",
                    "type": "synonym"
                },
                {
                    "name": "lrp5",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QTJ4-1",
            "evidence": [
                {
                    "id": "0060849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91VN0-1",
            "uniprot_ac": "Q91VN0",
            "uniprot_id": "LRP5_MOUSE",
            "refseq_ac": "NP_032539",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 5",
                    "type": "recommended"
                },
                {
                    "name": "LRP-5",
                    "type": "synonym"
                },
                {
                    "name": "LRP-7",
                    "type": "synonym"
                },
                {
                    "name": "Low-density lipoprotein receptor-related protein 7",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrp5",
                    "type": "recommended"
                },
                {
                    "name": "BMND1",
                    "type": "synonym"
                },
                {
                    "name": "HBM",
                    "type": "synonym"
                },
                {
                    "name": "LR3",
                    "type": "synonym"
                },
                {
                    "name": "LRP7",
                    "type": "synonym"
                },
                {
                    "name": "Lr3",
                    "type": "synonym"
                },
                {
                    "name": "Lrp5",
                    "type": "synonym"
                },
                {
                    "name": "Lrp7",
                    "type": "synonym"
                },
                {
                    "name": "OPPG",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4142",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91VN0-1",
            "evidence": [
                {
                    "id": "0060849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75197-1",
            "uniprot_ac": "O75197",
            "uniprot_id": "LRP5_HUMAN",
            "refseq_ac": "NP_001278831",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 5",
                    "type": "recommended"
                },
                {
                    "name": "LRP-5",
                    "type": "synonym"
                },
                {
                    "name": "LRP-7",
                    "type": "synonym"
                },
                {
                    "name": "Low-density lipoprotein receptor-related protein 7",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein receptor-related protein 5",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein receptor-related protein 7",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 5 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRP5",
                    "type": "recommended"
                },
                {
                    "name": "BMND1",
                    "type": "synonym"
                },
                {
                    "name": "EVR1",
                    "type": "synonym"
                },
                {
                    "name": "EVR4",
                    "type": "synonym"
                },
                {
                    "name": "HBM",
                    "type": "synonym"
                },
                {
                    "name": "LR3",
                    "type": "synonym"
                },
                {
                    "name": "LRP-5",
                    "type": "synonym"
                },
                {
                    "name": "LRP-7",
                    "type": "synonym"
                },
                {
                    "name": "LRP5",
                    "type": "synonym"
                },
                {
                    "name": "LRP7",
                    "type": "synonym"
                },
                {
                    "name": "OPPG",
                    "type": "synonym"
                },
                {
                    "name": "OPS",
                    "type": "synonym"
                },
                {
                    "name": "OPTA1",
                    "type": "synonym"
                },
                {
                    "name": "PCLD4",
                    "type": "synonym"
                },
                {
                    "name": "VBCH2",
                    "type": "synonym"
                }
            ],
            "record_id": "O75197-1",
            "evidence": [
                {
                    "id": "259770",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/259770"
                },
                {
                    "id": "0060849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1MAD0-1",
            "uniprot_ac": "F1MAD0",
            "uniprot_id": "F1MAD0_RAT",
            "refseq_ac": "NP_001424443",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein",
                    "type": "recommended"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 5 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrp5",
                    "type": "recommended"
                },
                {
                    "name": "Lrp5",
                    "type": "synonym"
                }
            ],
            "record_id": "F1MAD0-1",
            "evidence": [
                {
                    "id": "0060849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9D7-1",
            "uniprot_ac": "A1Z9D7",
            "uniprot_id": "A1Z9D7_DROME",
            "refseq_ac": "NP_524737",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein",
                    "type": "recommended"
                },
                {
                    "name": "CG5912-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dm arrow",
                    "type": "synonym"
                },
                {
                    "name": "LDL-related protein 6",
                    "type": "synonym"
                },
                {
                    "name": "LDLR-like",
                    "type": "synonym"
                },
                {
                    "name": "LRP5/6/Arrow",
                    "type": "synonym"
                },
                {
                    "name": "arr-PA",
                    "type": "synonym"
                },
                {
                    "name": "arrow",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "arr",
                    "type": "recommended"
                },
                {
                    "name": "6",
                    "type": "synonym"
                },
                {
                    "name": "Arr",
                    "type": "synonym"
                },
                {
                    "name": "Arw",
                    "type": "synonym"
                },
                {
                    "name": "BEST:CK00539",
                    "type": "synonym"
                },
                {
                    "name": "CG5912",
                    "type": "synonym"
                },
                {
                    "name": "CK00539",
                    "type": "synonym"
                },
                {
                    "name": "CT15575",
                    "type": "synonym"
                },
                {
                    "name": "Dm Arr",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5912",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5912",
                    "type": "synonym"
                },
                {
                    "name": "Irp6",
                    "type": "synonym"
                },
                {
                    "name": "LRP/Arr",
                    "type": "synonym"
                },
                {
                    "name": "LRP5/6",
                    "type": "synonym"
                },
                {
                    "name": "LRP6",
                    "type": "synonym"
                },
                {
                    "name": "LRP",
                    "type": "synonym"
                },
                {
                    "name": "arr",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k08131",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z9D7-1",
            "evidence": [
                {
                    "id": "0060849",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060849"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060849"
}