{
    "disease_id": "DOID:0061229",
    "recommended_name": {
        "id": "DOID:0061229",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061229",
        "name": "Camurati-Engelmann disease 1",
        "description": "An osteosclerosis characterized by the cortical thickening of the diaphyses of the long bones that has_material_basis_in domain-specific heterozygous mutations in the transforming growth factor-beta-1 gene (TGFB1) on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0700385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700385",
            "name": "Camurati-Engelmann disease type 1",
            "description": "A Camurati-Engelmann disease caused by a variation in the TGFB1 gene."
        },
        {
            "id": "MIM:131300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/131300",
            "name": "Camurati-Engelmann disease",
            "description": "Camurati-Engelmann disease"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061229"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061229",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061229",
            "categories": []
        },
        {
            "id": "MONDO:0700385",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700385",
            "categories": []
        },
        {
            "id": "MIM:131300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/131300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QHW0-1",
            "uniprot_ac": "E9QHW0",
            "uniprot_id": "E9QHW0_DANRE",
            "refseq_ac": "XP_692338",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transforming growth factor beta",
                    "type": "recommended"
                },
                {
                    "name": "transforming growth factor beta-1 proprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tgfb1b",
                    "type": "recommended"
                },
                {
                    "name": "tgfb1b",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QHW0-1",
            "evidence": [
                {
                    "id": "0061229",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061229"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04202-1",
            "uniprot_ac": "P04202",
            "uniprot_id": "TGFB1_MOUSE",
            "refseq_ac": "NP_035707",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transforming growth factor beta-1 proprotein",
                    "type": "recommended"
                },
                {
                    "name": "transforming growth factor beta-1 proprotein preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-1 proprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgfb1",
                    "type": "recommended"
                },
                {
                    "name": "TGF-beta1",
                    "type": "synonym"
                },
                {
                    "name": "TGFbeta1",
                    "type": "synonym"
                },
                {
                    "name": "Tgfb-1",
                    "type": "synonym"
                },
                {
                    "name": "Tgfb1",
                    "type": "synonym"
                },
                {
                    "name": "Tgfb",
                    "type": "synonym"
                }
            ],
            "record_id": "P04202-1",
            "evidence": [
                {
                    "id": "0061229",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061229"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01137-1",
            "uniprot_ac": "P01137",
            "uniprot_id": "TGFB1_HUMAN",
            "refseq_ac": "NP_000651",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transforming growth factor beta-1 proprotein",
                    "type": "recommended"
                },
                {
                    "name": "TGF-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "latency-associated peptide",
                    "type": "synonym"
                },
                {
                    "name": "prepro-transforming growth factor beta-1",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-1 proprotein preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-1 proprotein",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TGFB1",
                    "type": "recommended"
                },
                {
                    "name": "CAEND1",
                    "type": "synonym"
                },
                {
                    "name": "CED",
                    "type": "synonym"
                },
                {
                    "name": "DPD1",
                    "type": "synonym"
                },
                {
                    "name": "IBDIMDE",
                    "type": "synonym"
                },
                {
                    "name": "LAP",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta1",
                    "type": "synonym"
                },
                {
                    "name": "TGFB1",
                    "type": "synonym"
                },
                {
                    "name": "TGFB",
                    "type": "synonym"
                },
                {
                    "name": "TGFbeta",
                    "type": "synonym"
                }
            ],
            "record_id": "P01137-1",
            "evidence": [
                {
                    "id": "131300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/131300"
                },
                {
                    "id": "0061229",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061229"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17246-1",
            "uniprot_ac": "P17246",
            "uniprot_id": "TGFB1_RAT",
            "refseq_ac": "NP_067589",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transforming growth factor beta-1 proprotein",
                    "type": "recommended"
                },
                {
                    "name": "TGF-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-1 proprotein precursor",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-1 proprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgfb1",
                    "type": "recommended"
                },
                {
                    "name": "Tgfb1",
                    "type": "synonym"
                },
                {
                    "name": "Tgfb",
                    "type": "synonym"
                }
            ],
            "record_id": "P17246-1",
            "evidence": [
                {
                    "id": "0061229",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061229"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061229"
}