{
    "disease_id": "DOID:0081365",
    "recommended_name": {
        "id": "DOID:0081365",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081365",
        "name": "Paget's disease of bone 2",
        "description": "A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21."
    },
    "synonyms": [
        {
            "id": "DOID:0081365",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081365",
            "name": "Paget disease of bone-2",
            "description": ""
        },
        {
            "id": "MONDO:0011183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011183",
            "name": "Paget disease of bone 2, early-onset",
            "description": ""
        },
        {
            "id": "MONDO:0011183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011183",
            "name": "Paget disease of bone 2, early-onset",
            "description": ""
        },
        {
            "id": "MONDO:0011183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011183",
            "name": "PDB2",
            "description": ""
        },
        {
            "id": "MIM:602080",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602080",
            "name": "Paget disease of bone 2, early-onset",
            "description": "Paget disease of bone 2, early-onset"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081365"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081365",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081365",
            "categories": []
        },
        {
            "id": "MONDO:0011183",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011183",
            "categories": []
        },
        {
            "id": "MIM:602080",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602080",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F027-1",
            "uniprot_ac": "E7F027",
            "uniprot_id": "E7F027_DANRE",
            "refseq_ac": "XP_005162686",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member 11A isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 11A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnfrsf11a",
                    "type": "recommended"
                },
                {
                    "name": "tnfrsf11a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F027-1",
            "evidence": [
                {
                    "id": "0081365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081365"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35305-1",
            "uniprot_ac": "O35305",
            "uniprot_id": "TNR11_MOUSE",
            "refseq_ac": "NP_033425",
            "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 11A",
                    "type": "recommended"
                },
                {
                    "name": "ODFR",
                    "type": "synonym"
                },
                {
                    "name": "Osteoclast differentiation factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "Receptor activator of NF-KB",
                    "type": "synonym"
                },
                {
                    "name": "osteoclast differentiation factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "receptor activator of NF-KB",
                    "type": "synonym"
                },
                {
                    "name": "receptor activator of NF-kappaB",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 11A precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnfrsf11a",
                    "type": "recommended"
                },
                {
                    "name": "Ly109",
                    "type": "synonym"
                },
                {
                    "name": "ODFR",
                    "type": "synonym"
                },
                {
                    "name": "OFE",
                    "type": "synonym"
                },
                {
                    "name": "Rank",
                    "type": "synonym"
                },
                {
                    "name": "TRANCE-R",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf11a",
                    "type": "synonym"
                },
                {
                    "name": "mRANK",
                    "type": "synonym"
                }
            ],
            "record_id": "O35305-1",
            "evidence": [
                {
                    "id": "0081365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081365"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6Q6-1",
            "uniprot_ac": "Q9Y6Q6",
            "uniprot_id": "TNR11_HUMAN",
            "refseq_ac": "NP_001257878",
            "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 11A",
                    "type": "recommended"
                },
                {
                    "name": "ODFR",
                    "type": "synonym"
                },
                {
                    "name": "Osteoclast differentiation factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "Paget disease of bone 2",
                    "type": "synonym"
                },
                {
                    "name": "Receptor activator of NF-KB",
                    "type": "synonym"
                },
                {
                    "name": "TRANCE receptor",
                    "type": "synonym"
                },
                {
                    "name": "familial expansile osteolysis",
                    "type": "synonym"
                },
                {
                    "name": "loss of heterozygosity, 18, chromosomal region 1",
                    "type": "synonym"
                },
                {
                    "name": "osteoclast differentiation factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "receptor activator of NF-KB",
                    "type": "synonym"
                },
                {
                    "name": "receptor activator of nuclear factor-kappa B",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 11A isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 11a",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily, member 11a, NFKB activator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNFRSF11A",
                    "type": "recommended"
                },
                {
                    "name": "CD265",
                    "type": "synonym"
                },
                {
                    "name": "FEO",
                    "type": "synonym"
                },
                {
                    "name": "LOH18CR1",
                    "type": "synonym"
                },
                {
                    "name": "ODFR",
                    "type": "synonym"
                },
                {
                    "name": "OFE",
                    "type": "synonym"
                },
                {
                    "name": "OPTB7",
                    "type": "synonym"
                },
                {
                    "name": "OSTS",
                    "type": "synonym"
                },
                {
                    "name": "PDB2",
                    "type": "synonym"
                },
                {
                    "name": "RANK",
                    "type": "synonym"
                },
                {
                    "name": "TNFRSF11A",
                    "type": "synonym"
                },
                {
                    "name": "TRANCE-R",
                    "type": "synonym"
                },
                {
                    "name": "TRANCER",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6Q6-1",
            "evidence": [
                {
                    "id": "602080",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602080"
                },
                {
                    "id": "0081365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081365"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M8Z6-1",
            "uniprot_ac": "F1M8Z6",
            "uniprot_id": "F1M8Z6_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TNF receptor superfamily member 11A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnfrsf11a",
                    "type": "recommended"
                }
            ],
            "record_id": "F1M8Z6-1",
            "evidence": [
                {
                    "id": "0081365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081365"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081365"
}
