{
    "disease_id": "DOID:0060251",
    "recommended_name": {
        "id": "DOID:0060251",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060251",
        "name": "sclerosteosis",
        "description": "A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life."
    },
    "synonyms": [
        {
            "id": "MONDO:0010016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010016",
            "name": "sclerosteosis 1",
            "description": "Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene."
        },
        {
            "id": "MONDO:0010016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010016",
            "name": "SOST sclerosteosis",
            "description": ""
        },
        {
            "id": "MONDO:0010016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010016",
            "name": "SOST1",
            "description": ""
        },
        {
            "id": "MONDO:0010016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010016",
            "name": "sclerosteosis 1",
            "description": ""
        },
        {
            "id": "MONDO:0010016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010016",
            "name": "sclerosteosis caused by mutation in SOST",
            "description": ""
        },
        {
            "id": "MONDO:0010016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010016",
            "name": "sclerosteosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010016",
            "name": "SOST",
            "description": ""
        },
        {
            "id": "MIM:269500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/269500",
            "name": "Sclerosteosis 1",
            "description": "Sclerosteosis 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0060756",
            "label": "sclerosteosis 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060757",
            "label": "sclerosteosis 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060251",
        "DOID:0060757",
        "DOID:0060756"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060251",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060251",
            "categories": []
        },
        {
            "id": "MONDO:0010016",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010016",
            "categories": []
        },
        {
            "id": "MIM:269500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/269500",
            "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": "0060251",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060251"
                }
            ]
        },
        {
            "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": "0060251",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060251"
                }
            ]
        },
        {
            "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": "269500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/269500"
                },
                {
                    "id": "0060251",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060251"
                }
            ]
        },
        {
            "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": "0060251",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060251"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060251"
}