{
    "disease_id": "DOID:0111542",
    "recommended_name": {
        "id": "DOID:0111542",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111542",
        "name": "familial expansile osteolysis",
        "description": "A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111542",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111542",
            "name": "FEO",
            "description": ""
        },
        {
            "id": "DOID:0111542",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111542",
            "name": "McCabe disease",
            "description": ""
        },
        {
            "id": "DOID:0111542",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111542",
            "name": "hereditary expansile polyostotic osteolytic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008275",
            "name": "familial expansile osteolysis",
            "description": ""
        },
        {
            "id": "MONDO:0008275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008275",
            "name": "McCabe disease",
            "description": ""
        },
        {
            "id": "MONDO:0008275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008275",
            "name": "familial expansile osteolysis",
            "description": ""
        },
        {
            "id": "MONDO:0008275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008275",
            "name": "hereditary expansile polyostotic osteolytic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008275",
            "name": "EOF",
            "description": ""
        },
        {
            "id": "MONDO:0008275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008275",
            "name": "FEO",
            "description": ""
        },
        {
            "id": "MONDO:0008275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008275",
            "name": "HEPOD",
            "description": ""
        },
        {
            "id": "MONDO:0008275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008275",
            "name": "osteolysis, familial expansile",
            "description": ""
        },
        {
            "id": "MIM:174810",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/174810",
            "name": "Familial expansile osteolysis",
            "description": "Familial expansile osteolysis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111542"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111542",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111542",
            "categories": []
        },
        {
            "id": "MONDO:0008275",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008275",
            "categories": []
        },
        {
            "id": "MIM:174810",
            "database": "MIM",
            "url": "https://www.omim.org/entry/174810",
            "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": "0111542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111542"
                }
            ]
        },
        {
            "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": "0111542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111542"
                }
            ]
        },
        {
            "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": "174810",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/174810"
                },
                {
                    "id": "0111542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111542"
                }
            ]
        },
        {
            "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": "0111542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111542"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111542"
}