{
    "disease_id": "DOID:0080036",
    "recommended_name": {
        "id": "DOID:0080036",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080036",
        "name": "SOST-related sclerosing bone dysplasia",
        "description": "A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull."
    },
    "synonyms": [
        {
            "id": "DOID:0080036",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080036",
            "name": "van Buchem disease",
            "description": ""
        },
        {
            "id": "MONDO:0009395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009395",
            "name": "hyperostosis corticalis generalisata",
            "description": "Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies."
        },
        {
            "id": "MONDO:0009395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009395",
            "name": "Van Buchem disease",
            "description": ""
        },
        {
            "id": "MONDO:0009395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009395",
            "name": "endosteal hyperostosis",
            "description": ""
        },
        {
            "id": "MONDO:0009395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009395",
            "name": "hyperostosis corticalis generalisata",
            "description": ""
        },
        {
            "id": "MONDO:0009395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009395",
            "name": "hyperphosphatasemia tarda",
            "description": ""
        },
        {
            "id": "MONDO:0009395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009395",
            "name": "van Buchem disease",
            "description": ""
        },
        {
            "id": "MONDO:0009395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009395",
            "name": "van Buchem disease type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009395",
            "name": "VBCH",
            "description": ""
        },
        {
            "id": "MONDO:0009395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009395",
            "name": "endosteal hyperostosis autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:239100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/239100",
            "name": "Van Buchem disease",
            "description": "Van Buchem disease"
        }
    ],
    "children": [
        {
            "id": "DOID:0060756",
            "label": "sclerosteosis 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080036",
        "DOID:0060756"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080036",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080036",
            "categories": []
        },
        {
            "id": "MONDO:0009395",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009395",
            "categories": []
        },
        {
            "id": "MIM:239100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/239100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PZF1-1",
            "uniprot_ac": "A0A8M1PZF1",
            "uniprot_id": "A0A8M1PZF1_DANRE",
            "refseq_ac": "XP_001340683",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sclerostin",
                    "type": "recommended"
                },
                {
                    "name": "sclerostin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sost",
                    "type": "recommended"
                },
                {
                    "name": "sost",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PZF1-1",
            "evidence": [
                {
                    "id": "0080036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080036"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99P68-1",
            "uniprot_ac": "Q99P68",
            "uniprot_id": "SOST_MOUSE",
            "refseq_ac": "NP_077769",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sclerostin",
                    "type": "recommended"
                },
                {
                    "name": "sclerostin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sost",
                    "type": "recommended"
                },
                {
                    "name": "5430411E23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Sost",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99P68-1",
            "evidence": [
                {
                    "id": "0080036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080036"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BQB4-1",
            "uniprot_ac": "Q9BQB4",
            "uniprot_id": "SOST_HUMAN",
            "refseq_ac": "NP_079513",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sclerostin",
                    "type": "recommended"
                },
                {
                    "name": "sclerostin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SOST",
                    "type": "recommended"
                },
                {
                    "name": "CDD",
                    "type": "synonym"
                },
                {
                    "name": "DAND6",
                    "type": "synonym"
                },
                {
                    "name": "PRO7476",
                    "type": "synonym"
                },
                {
                    "name": "SOST1",
                    "type": "synonym"
                },
                {
                    "name": "SOST",
                    "type": "synonym"
                },
                {
                    "name": "VBCH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BQB4-1",
            "evidence": [
                {
                    "id": "239100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/239100"
                },
                {
                    "id": "0080036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080036"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99P67-1",
            "uniprot_ac": "Q99P67",
            "uniprot_id": "SOST_RAT",
            "refseq_ac": "NP_085073",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sclerostin",
                    "type": "recommended"
                },
                {
                    "name": "sclerosteosis",
                    "type": "synonym"
                },
                {
                    "name": "sclerostin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sost",
                    "type": "recommended"
                },
                {
                    "name": "Sost",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99P67-1",
            "evidence": [
                {
                    "id": "0080036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080036"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080036"
}