{
    "disease_id": "DOID:0081368",
    "recommended_name": {
        "id": "DOID:0081368",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081368",
        "name": "Paget's disease of bone 5",
        "description": "A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "DOID:0081368",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081368",
            "name": "Familial osteoectasia",
            "description": ""
        },
        {
            "id": "DOID:0081368",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081368",
            "name": "Hereditary hyperphosphatasia",
            "description": ""
        },
        {
            "id": "DOID:0081368",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081368",
            "name": "Hyperostosis corticalis deformans juvenilis",
            "description": ""
        },
        {
            "id": "DOID:0081368",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081368",
            "name": "Juvenile Paget disease",
            "description": ""
        },
        {
            "id": "DOID:0081368",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081368",
            "name": "Paget disease of bone-5",
            "description": ""
        },
        {
            "id": "MONDO:0009394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009394",
            "name": "juvenile Paget disease",
            "description": "Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss."
        },
        {
            "id": "MONDO:0009394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009394",
            "name": "Hereditary Hyperphosphatasia",
            "description": ""
        },
        {
            "id": "MONDO:0009394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009394",
            "name": "JPG",
            "description": ""
        },
        {
            "id": "MONDO:0009394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009394",
            "name": "familial hyperphosphatasia",
            "description": ""
        },
        {
            "id": "MONDO:0009394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009394",
            "name": "familial osteoectasia",
            "description": ""
        },
        {
            "id": "MONDO:0009394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009394",
            "name": "hereditary hyperphosphatasia",
            "description": ""
        },
        {
            "id": "MONDO:0009394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009394",
            "name": "hyperostosis corticalis deformans juvenilis",
            "description": ""
        },
        {
            "id": "MONDO:0009394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009394",
            "name": "juvenile Paget disease",
            "description": ""
        },
        {
            "id": "MONDO:0009394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009394",
            "name": "juvenile Paget's disease",
            "description": ""
        },
        {
            "id": "MONDO:0009394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009394",
            "name": "JPD",
            "description": ""
        },
        {
            "id": "MONDO:0009394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009394",
            "name": "PDB5",
            "description": ""
        },
        {
            "id": "MONDO:0009394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009394",
            "name": "Paget disease juvenile type",
            "description": ""
        },
        {
            "id": "MONDO:0009394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009394",
            "name": "Paget disease of bone 5, juvenile-onset",
            "description": ""
        },
        {
            "id": "MONDO:0009394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009394",
            "name": "hyperostosid corticalis deformans juvenilis",
            "description": ""
        },
        {
            "id": "MONDO:0009394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009394",
            "name": "juvenile Pagets disease",
            "description": ""
        },
        {
            "id": "MIM:239000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/239000",
            "name": "Paget disease of bone 5, juvenile-onset",
            "description": "Paget disease of bone 5, juvenile-onset"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081368"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081368",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081368",
            "categories": []
        },
        {
            "id": "MONDO:0009394",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009394",
            "categories": []
        },
        {
            "id": "MIM:239000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/239000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O08712-1",
            "uniprot_ac": "O08712",
            "uniprot_id": "TR11B_MOUSE",
            "refseq_ac": "NP_032790",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member 11B",
                    "type": "recommended"
                },
                {
                    "name": "Osteoclastogenesis inhibitory factor",
                    "type": "synonym"
                },
                {
                    "name": "Osteoprotegerin",
                    "type": "synonym"
                },
                {
                    "name": "osteoclastogenesis inhibitory factor",
                    "type": "synonym"
                },
                {
                    "name": "osteoprotegerin",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 11B isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 11B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnfrsf11b",
                    "type": "recommended"
                },
                {
                    "name": "OCIF",
                    "type": "synonym"
                },
                {
                    "name": "Ocif",
                    "type": "synonym"
                },
                {
                    "name": "Opg",
                    "type": "synonym"
                },
                {
                    "name": "TR1",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf11b",
                    "type": "synonym"
                }
            ],
            "record_id": "O08712-1",
            "evidence": [
                {
                    "id": "0081368",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081368"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00300-1",
            "uniprot_ac": "O00300",
            "uniprot_id": "TR11B_HUMAN",
            "refseq_ac": "NP_002537",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member 11B",
                    "type": "recommended"
                },
                {
                    "name": "Osteoclastogenesis inhibitory factor",
                    "type": "synonym"
                },
                {
                    "name": "Osteoprotegerin",
                    "type": "synonym"
                },
                {
                    "name": "osteoclastogenesis inhibitory factor",
                    "type": "synonym"
                },
                {
                    "name": "osteoprotegerin",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 11B precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 11B",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily, member 11b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNFRSF11B",
                    "type": "recommended"
                },
                {
                    "name": "OCIF",
                    "type": "synonym"
                },
                {
                    "name": "OPG",
                    "type": "synonym"
                },
                {
                    "name": "PDB5",
                    "type": "synonym"
                },
                {
                    "name": "TNFRSF11B",
                    "type": "synonym"
                },
                {
                    "name": "TR1",
                    "type": "synonym"
                }
            ],
            "record_id": "O00300-1",
            "evidence": [
                {
                    "id": "239000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/239000"
                },
                {
                    "id": "0081368",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081368"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08727-1",
            "uniprot_ac": "O08727",
            "uniprot_id": "TR11B_RAT",
            "refseq_ac": "NP_037002",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member 11B",
                    "type": "recommended"
                },
                {
                    "name": "Osteoprotegerin",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 11B precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnfrsf11b",
                    "type": "recommended"
                },
                {
                    "name": "Opg",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf11b",
                    "type": "synonym"
                }
            ],
            "record_id": "O08727-1",
            "evidence": [
                {
                    "id": "0081368",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081368"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081368"
}