{
    "disease_id": "DOID:0061230",
    "recommended_name": {
        "id": "DOID:0061230",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061230",
        "name": "Camurati-Engelmann disease 2",
        "description": "An osteosclerosis characterized by progressive diaphyseal dysplasia, associated with a waddling gait, muscle weakness, and severe leg pain that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41."
    },
    "synonyms": [
        {
            "id": "MONDO:0011690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011690",
            "name": "Camurati-Engelmann disease type 2",
            "description": "Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder."
        },
        {
            "id": "MONDO:0011690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011690",
            "name": "Camurati-Engelmann disease, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011690",
            "name": "CAEND2",
            "description": ""
        },
        {
            "id": "MONDO:0011690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011690",
            "name": "Camurati Engelmann disease, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011690",
            "name": "progressive diaphyseal dysplasia with striations of the bones",
            "description": ""
        },
        {
            "id": "MIM:606631",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606631",
            "name": "Camurati-Engelmann disease 2",
            "description": "Camurati-Engelmann disease 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061230"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061230",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061230",
            "categories": []
        },
        {
            "id": "MONDO:0011690",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011690",
            "categories": []
        },
        {
            "id": "MIM:606631",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606631",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P27090-1",
            "uniprot_ac": "P27090",
            "uniprot_id": "TGFB2_MOUSE",
            "refseq_ac": "NP_033393",
            "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-2 proprotein",
                    "type": "recommended"
                },
                {
                    "name": "transforming growth factor beta-2 proprotein isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-2 proprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgfb2",
                    "type": "recommended"
                },
                {
                    "name": "Tgf-beta2",
                    "type": "synonym"
                },
                {
                    "name": "Tgfb-2",
                    "type": "synonym"
                },
                {
                    "name": "Tgfb2",
                    "type": "synonym"
                }
            ],
            "record_id": "P27090-1",
            "evidence": [
                {
                    "id": "0061230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61812-1",
            "uniprot_ac": "P61812",
            "uniprot_id": "TGFB2_HUMAN",
            "refseq_ac": "NP_001129071",
            "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-2 proprotein",
                    "type": "recommended"
                },
                {
                    "name": "BSC-1 cell growth inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "Cetermin",
                    "type": "synonym"
                },
                {
                    "name": "G-TSF",
                    "type": "synonym"
                },
                {
                    "name": "Glioblastoma-derived T-cell suppressor factor",
                    "type": "synonym"
                },
                {
                    "name": "cetermin",
                    "type": "synonym"
                },
                {
                    "name": "glioblastoma-derived T-cell suppressor factor",
                    "type": "synonym"
                },
                {
                    "name": "polyergin",
                    "type": "synonym"
                },
                {
                    "name": "prepro-transforming growth factor beta-2",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-2 proprotein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-2 proprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TGFB2",
                    "type": "recommended"
                },
                {
                    "name": "CAEND2",
                    "type": "synonym"
                },
                {
                    "name": "G-TSF",
                    "type": "synonym"
                },
                {
                    "name": "LDS4",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta2",
                    "type": "synonym"
                },
                {
                    "name": "TGFB2",
                    "type": "synonym"
                }
            ],
            "record_id": "P61812-1",
            "evidence": [
                {
                    "id": "606631",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606631"
                },
                {
                    "id": "0061230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07257-1",
            "uniprot_ac": "Q07257",
            "uniprot_id": "TGFB2_RAT",
            "refseq_ac": "NP_112393",
            "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-2 proprotein",
                    "type": "recommended"
                },
                {
                    "name": "TGF beta 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta-2",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-2 proprotein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-2 proprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgfb2",
                    "type": "recommended"
                },
                {
                    "name": "TGF-B2",
                    "type": "synonym"
                },
                {
                    "name": "Tgfb2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07257-1",
            "evidence": [
                {
                    "id": "0061230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061230"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061230"
}