{
    "disease_id": "DOID:0110347",
    "recommended_name": {
        "id": "DOID:0110347",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110347",
        "name": "osteogenesis imperfecta type 15",
        "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110347",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110347",
            "name": "OI15",
            "description": ""
        },
        {
            "id": "DOID:0110347",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110347",
            "name": "osteogenesis imperfecta type XV",
            "description": ""
        },
        {
            "id": "MONDO:0014086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014086",
            "name": "osteogenesis imperfecta type 15",
            "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene."
        },
        {
            "id": "MONDO:0014086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014086",
            "name": "OI15",
            "description": ""
        },
        {
            "id": "MONDO:0014086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014086",
            "name": "WNT1 osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0014086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014086",
            "name": "osteogenesis imperfecta caused by mutation in WNT1",
            "description": ""
        },
        {
            "id": "MONDO:0014086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014086",
            "name": "osteogenesis imperfecta, type XV",
            "description": ""
        },
        {
            "id": "MIM:615220",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615220",
            "name": "Osteogenesis imperfecta 15",
            "description": "Osteogenesis imperfecta 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110347"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110347",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110347",
            "categories": []
        },
        {
            "id": "MONDO:0014086",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014086",
            "categories": []
        },
        {
            "id": "MIM:615220",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615220",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P24257-1",
            "uniprot_ac": "P24257",
            "uniprot_id": "WNT1_DANRE",
            "refseq_ac": "NP_001188327",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt-1",
                    "type": "recommended"
                },
                {
                    "name": "etID22400.23",
                    "type": "synonym"
                },
                {
                    "name": "protein Wnt-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein Wnt-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wnt1",
                    "type": "recommended"
                },
                {
                    "name": "WNT-1",
                    "type": "synonym"
                },
                {
                    "name": "int-1",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu647",
                    "type": "synonym"
                },
                {
                    "name": "wnt-1",
                    "type": "synonym"
                },
                {
                    "name": "wnt1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:194464",
                    "type": "synonym"
                },
                {
                    "name": "zgc:194478",
                    "type": "synonym"
                }
            ],
            "record_id": "P24257-1",
            "evidence": [
                {
                    "id": "0110347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110347"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04426-1",
            "uniprot_ac": "P04426",
            "uniprot_id": "WNT1_MOUSE",
            "refseq_ac": "NP_067254",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proto-oncogene Wnt-1",
                    "type": "recommended"
                },
                {
                    "name": "Proto-oncogene Int-1",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene Int-1",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene Wnt-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene Wnt-1",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene protein Wnt-1",
                    "type": "synonym"
                },
                {
                    "name": "wingless-related MMTV integration site 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnt1",
                    "type": "recommended"
                },
                {
                    "name": "Int-1",
                    "type": "synonym"
                },
                {
                    "name": "Wnt-1",
                    "type": "synonym"
                },
                {
                    "name": "Wnt1",
                    "type": "synonym"
                },
                {
                    "name": "swaying",
                    "type": "synonym"
                },
                {
                    "name": "sw",
                    "type": "synonym"
                }
            ],
            "record_id": "P04426-1",
            "evidence": [
                {
                    "id": "0110347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110347"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04628-1",
            "uniprot_ac": "P04628",
            "uniprot_id": "WNT1_HUMAN",
            "refseq_ac": "NP_005421",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proto-oncogene Wnt-1",
                    "type": "recommended"
                },
                {
                    "name": "Proto-oncogene Int-1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene Int-1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene Wnt-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "wingless-type MMTV integration site family member 1",
                    "type": "synonym"
                },
                {
                    "name": "wingless-type MMTV integration site family, member 1 (oncogene INT1)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WNT1",
                    "type": "recommended"
                },
                {
                    "name": "BMND16",
                    "type": "synonym"
                },
                {
                    "name": "INT1",
                    "type": "synonym"
                },
                {
                    "name": "OI15",
                    "type": "synonym"
                },
                {
                    "name": "WNT1",
                    "type": "synonym"
                }
            ],
            "record_id": "P04628-1",
            "evidence": [
                {
                    "id": "615220",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615220"
                },
                {
                    "id": "0110347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110347"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A9J2-1",
            "uniprot_ac": "D4A9J2",
            "uniprot_id": "D4A9J2_RAT",
            "refseq_ac": "NP_001099184",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt",
                    "type": "recommended"
                },
                {
                    "name": "Wingless-type MMTV integration site 1, homolog",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene Wnt-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene Wnt-1",
                    "type": "synonym"
                },
                {
                    "name": "wingless-related MMTV integration site 1",
                    "type": "synonym"
                },
                {
                    "name": "wingless-type MMTV integration site family, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnt1",
                    "type": "recommended"
                },
                {
                    "name": "Int1",
                    "type": "synonym"
                },
                {
                    "name": "Wnt1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A9J2-1",
            "evidence": [
                {
                    "id": "0110347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110347"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09615-1",
            "uniprot_ac": "P09615",
            "uniprot_id": "WNTG_DROME",
            "refseq_ac": "NP_523502",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein wingless",
                    "type": "recommended"
                },
                {
                    "name": "CG4889-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein Wnt-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein int-1",
                    "type": "synonym"
                },
                {
                    "name": "Wg",
                    "type": "synonym"
                },
                {
                    "name": "Wnt-1",
                    "type": "synonym"
                },
                {
                    "name": "bristled",
                    "type": "synonym"
                },
                {
                    "name": "complementation group I",
                    "type": "synonym"
                },
                {
                    "name": "dInt-1",
                    "type": "synonym"
                },
                {
                    "name": "dWnt-1",
                    "type": "synonym"
                },
                {
                    "name": "flag",
                    "type": "synonym"
                },
                {
                    "name": "glazed",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) SH1281",
                    "type": "synonym"
                },
                {
                    "name": "spade",
                    "type": "synonym"
                },
                {
                    "name": "sternopleural",
                    "type": "synonym"
                },
                {
                    "name": "wg-PA",
                    "type": "synonym"
                },
                {
                    "name": "wingless",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wg",
                    "type": "recommended"
                },
                {
                    "name": "Br",
                    "type": "synonym"
                },
                {
                    "name": "CG4889",
                    "type": "synonym"
                },
                {
                    "name": "D.int-1",
                    "type": "synonym"
                },
                {
                    "name": "DWint-1",
                    "type": "synonym"
                },
                {
                    "name": "DWnt-1",
                    "type": "synonym"
                },
                {
                    "name": "Dint-1",
                    "type": "synonym"
                },
                {
                    "name": "Dm Wg",
                    "type": "synonym"
                },
                {
                    "name": "Dm-1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4889",
                    "type": "synonym"
                },
                {
                    "name": "Dwnt-1",
                    "type": "synonym"
                },
                {
                    "name": "Gla",
                    "type": "synonym"
                },
                {
                    "name": "I",
                    "type": "synonym"
                },
                {
                    "name": "Sp",
                    "type": "synonym"
                },
                {
                    "name": "WG",
                    "type": "synonym"
                },
                {
                    "name": "WNT",
                    "type": "synonym"
                },
                {
                    "name": "Wg",
                    "type": "synonym"
                },
                {
                    "name": "Wnt-1",
                    "type": "synonym"
                },
                {
                    "name": "Wnt1",
                    "type": "synonym"
                },
                {
                    "name": "Wnt",
                    "type": "synonym"
                },
                {
                    "name": "dWnt",
                    "type": "synonym"
                },
                {
                    "name": "fg",
                    "type": "synonym"
                },
                {
                    "name": "int-1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)02657",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH1281",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2 1281",
                    "type": "synonym"
                },
                {
                    "name": "l(2)rO727",
                    "type": "synonym"
                },
                {
                    "name": "l(2)wg",
                    "type": "synonym"
                },
                {
                    "name": "spd",
                    "type": "synonym"
                },
                {
                    "name": "wgl",
                    "type": "synonym"
                },
                {
                    "name": "wg",
                    "type": "synonym"
                },
                {
                    "name": "wnt1",
                    "type": "synonym"
                },
                {
                    "name": "wnt",
                    "type": "synonym"
                }
            ],
            "record_id": "P09615-1",
            "evidence": [
                {
                    "id": "0110347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110347"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110347"
}