{
    "disease_id": "DOID:0110943",
    "recommended_name": {
        "id": "DOID:0110943",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110943",
        "name": "autosomal recessive osteopetrosis 2",
        "description": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14."
    },
    "synonyms": [
        {
            "id": "DOID:0110943",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110943",
            "name": "OPTB2",
            "description": ""
        },
        {
            "id": "DOID:0110943",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110943",
            "name": "mild autosomal recessive form osteopetrosis",
            "description": ""
        },
        {
            "id": "DOID:0110943",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110943",
            "name": "osteoclast-poor osteopetrosis",
            "description": ""
        },
        {
            "id": "MONDO:0009816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009816",
            "name": "autosomal recessive osteopetrosis 2",
            "description": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene."
        },
        {
            "id": "MONDO:0009816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009816",
            "name": "OPTB2",
            "description": ""
        },
        {
            "id": "MONDO:0009816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009816",
            "name": "TNFSF11 autosomal recessive malignant osteopetrosis",
            "description": ""
        },
        {
            "id": "MONDO:0009816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009816",
            "name": "TNFSF11 autosomal recessive osteopetrosis",
            "description": ""
        },
        {
            "id": "MONDO:0009816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009816",
            "name": "TNFSF11-related osteopetrosis",
            "description": ""
        },
        {
            "id": "MONDO:0009816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009816",
            "name": "autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11",
            "description": ""
        },
        {
            "id": "MONDO:0009816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009816",
            "name": "autosomal recessive osteopetrosis caused by mutation in TNFSF11",
            "description": ""
        },
        {
            "id": "MONDO:0009816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009816",
            "name": "autosomal recessive osteopetrosis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009816",
            "name": "osteopetrosis, autosomal recessive type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009816",
            "name": "osteopetrosis autosomal recessive 2",
            "description": ""
        },
        {
            "id": "MONDO:0009816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009816",
            "name": "osteopetrosis osteoclast-poor",
            "description": ""
        },
        {
            "id": "MONDO:0009816",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009816",
            "name": "osteopetrosis, autosomal recessive 2",
            "description": ""
        },
        {
            "id": "MIM:259710",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/259710",
            "name": "Osteopetrosis, autosomal recessive 2",
            "description": "Osteopetrosis, autosomal recessive 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110943"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110943",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110943",
            "categories": []
        },
        {
            "id": "MONDO:0009816",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009816",
            "categories": []
        },
        {
            "id": "MIM:259710",
            "database": "MIM",
            "url": "https://www.omim.org/entry/259710",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5I8-1",
            "uniprot_ac": "A0ACD6B5I8",
            "uniprot_id": "A0ACD6B5I8_DANRE",
            "refseq_ac": "XP_002663397",
            "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 ligand superfamily member 11",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor ligand superfamily member 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnfsf11",
                    "type": "recommended"
                },
                {
                    "name": "tnfsf11",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5I8-1",
            "evidence": [
                {
                    "id": "0110943",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110943"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35235-1",
            "uniprot_ac": "O35235",
            "uniprot_id": "TNF11_MOUSE",
            "refseq_ac": "NP_035743",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "name": "Tumor necrosis factor ligand superfamily member 11",
                    "type": "recommended"
                },
                {
                    "name": "ODF",
                    "type": "synonym"
                },
                {
                    "name": "OPG ligand",
                    "type": "synonym"
                },
                {
                    "name": "OPGL",
                    "type": "synonym"
                },
                {
                    "name": "Osteoclast differentiation factor",
                    "type": "synonym"
                },
                {
                    "name": "Osteoprotegerin ligand",
                    "type": "synonym"
                },
                {
                    "name": "RANKL",
                    "type": "synonym"
                },
                {
                    "name": "Receptor activator of nuclear factor kappa-B ligand",
                    "type": "synonym"
                },
                {
                    "name": "TNF-related activation-induced cytokine",
                    "type": "synonym"
                },
                {
                    "name": "TRANCE",
                    "type": "synonym"
                },
                {
                    "name": "osteoclast differentiation factor",
                    "type": "synonym"
                },
                {
                    "name": "osteoprotegerin ligand",
                    "type": "synonym"
                },
                {
                    "name": "receptor activator of NF-kappaB ligand",
                    "type": "synonym"
                },
                {
                    "name": "receptor activator of nuclear factor kappa-B ligand",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor ligand superfamily member 11",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor-related activation-induced cytokine",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnfsf11",
                    "type": "recommended"
                },
                {
                    "name": "Ly109l",
                    "type": "synonym"
                },
                {
                    "name": "ODF",
                    "type": "synonym"
                },
                {
                    "name": "OPGL",
                    "type": "synonym"
                },
                {
                    "name": "Opgl",
                    "type": "synonym"
                },
                {
                    "name": "RANKL",
                    "type": "synonym"
                },
                {
                    "name": "Rankl",
                    "type": "synonym"
                },
                {
                    "name": "Tnfsf11",
                    "type": "synonym"
                },
                {
                    "name": "Trance",
                    "type": "synonym"
                }
            ],
            "record_id": "O35235-1",
            "evidence": [
                {
                    "id": "0110943",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110943"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14788-1",
            "uniprot_ac": "O14788",
            "uniprot_id": "TNF11_HUMAN",
            "refseq_ac": "NP_003692",
            "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 ligand superfamily member 11",
                    "type": "recommended"
                },
                {
                    "name": "ODF",
                    "type": "synonym"
                },
                {
                    "name": "OPGL",
                    "type": "synonym"
                },
                {
                    "name": "Osteoclast differentiation factor",
                    "type": "synonym"
                },
                {
                    "name": "Osteoprotegerin ligand",
                    "type": "synonym"
                },
                {
                    "name": "RANKL",
                    "type": "synonym"
                },
                {
                    "name": "Receptor activator of nuclear factor kappa-B ligand",
                    "type": "synonym"
                },
                {
                    "name": "TNF-related activation-induced cytokine",
                    "type": "synonym"
                },
                {
                    "name": "TRANCE",
                    "type": "synonym"
                },
                {
                    "name": "osteoclast differentiation factor",
                    "type": "synonym"
                },
                {
                    "name": "osteoprotegerin ligand",
                    "type": "synonym"
                },
                {
                    "name": "receptor activator of nuclear factor kappa B ligand",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor (ligand) superfamily, member 11",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor ligand 6B",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor ligand superfamily member 11 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor superfamily member 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNFSF11",
                    "type": "recommended"
                },
                {
                    "name": "CD254",
                    "type": "synonym"
                },
                {
                    "name": "ODF",
                    "type": "synonym"
                },
                {
                    "name": "OPGL",
                    "type": "synonym"
                },
                {
                    "name": "OPTB2",
                    "type": "synonym"
                },
                {
                    "name": "RANKL",
                    "type": "synonym"
                },
                {
                    "name": "TNFSF11",
                    "type": "synonym"
                },
                {
                    "name": "TNLG6B",
                    "type": "synonym"
                },
                {
                    "name": "TRANCE",
                    "type": "synonym"
                },
                {
                    "name": "hRANKL2",
                    "type": "synonym"
                },
                {
                    "name": "sOdf",
                    "type": "synonym"
                }
            ],
            "record_id": "O14788-1",
            "evidence": [
                {
                    "id": "259710",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/259710"
                },
                {
                    "id": "0110943",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110943"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ESE2-1",
            "uniprot_ac": "Q9ESE2",
            "uniprot_id": "TNF11_RAT",
            "refseq_ac": "NP_476490",
            "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 ligand superfamily member 11",
                    "type": "recommended"
                },
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                    "name": "ODF",
                    "type": "synonym"
                },
                {
                    "name": "OPGL",
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                },
                {
                    "name": "Osteoclast differentiation factor",
                    "type": "synonym"
                },
                {
                    "name": "Osteoprotegerin ligand",
                    "type": "synonym"
                },
                {
                    "name": "RANKL",
                    "type": "synonym"
                },
                {
                    "name": "Receptor activator of nuclear factor kappa-B ligand",
                    "type": "synonym"
                },
                {
                    "name": "TNF-related activation-induced cytokine",
                    "type": "synonym"
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                {
                    "name": "TRANCE",
                    "type": "synonym"
                },
                {
                    "name": "osteoclast differentiation factor",
                    "type": "synonym"
                },
                {
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                },
                {
                    "name": "receptor activator of nuclear factor kappa-B ligand",
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                {
                    "name": "tumor necrosis factor (ligand) superfamily, member 11",
                    "type": "synonym"
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                {
                    "name": "tumor necrosis factor ligand superfamily member 11",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor superfamily member 11",
                    "type": "synonym"
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            ],
            "gene_names": [
                {
                    "name": "Tnfsf11",
                    "type": "recommended"
                },
                {
                    "name": "ODF",
                    "type": "synonym"
                },
                {
                    "name": "OPGL",
                    "type": "synonym"
                },
                {
                    "name": "Opgl",
                    "type": "synonym"
                },
                {
                    "name": "RANKL",
                    "type": "synonym"
                },
                {
                    "name": "Rankl",
                    "type": "synonym"
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                {
                    "name": "TRANCE",
                    "type": "synonym"
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                    "name": "Tnfsf11",
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                },
                {
                    "name": "Trance",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ESE2-1",
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                {
                    "id": "0110943",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110943"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110943"
}