{
    "disease_id": "DOID:0080696",
    "recommended_name": {
        "id": "DOID:0080696",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080696",
        "name": "Winchester syndrome",
        "description": "A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet."
    },
    "synonyms": [
        {
            "id": "MONDO:0010201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010201",
            "name": "Winchester syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010201",
            "name": "MMP14-related multicentric osteolysis, nodulosis, and arthropathy",
            "description": ""
        },
        {
            "id": "MONDO:0010201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010201",
            "name": "MONA, MMP14-related",
            "description": ""
        },
        {
            "id": "MONDO:0010201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010201",
            "name": "WNCHRS",
            "description": ""
        },
        {
            "id": "MONDO:0010201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010201",
            "name": "Winchester syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010201",
            "name": "multicentric osteolysis, nodulosis and arthropathy, MMP14-related",
            "description": ""
        },
        {
            "id": "MONDO:0010201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010201",
            "name": "Al-Qeel Sewairi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010201",
            "name": "NOA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010201",
            "name": "multicentric osteolysis, nodulosis and arthropathy",
            "description": ""
        },
        {
            "id": "MONDO:0010201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010201",
            "name": "nodulosis arthropathy osteolysis syndrome",
            "description": ""
        },
        {
            "id": "MIM:277950",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277950",
            "name": "Winchester syndrome",
            "description": "Winchester syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080696"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080696",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080696",
            "categories": []
        },
        {
            "id": "MONDO:0010201",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010201",
            "categories": []
        },
        {
            "id": "MIM:277950",
            "database": "MIM",
            "url": "https://www.omim.org/entry/277950",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0R0I1-1",
            "uniprot_ac": "B0R0I1",
            "uniprot_id": "B0R0I1_DANRE",
            "refseq_ac": "XP_005171367",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrix metalloproteinase-14",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.80",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-14b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mmp14b",
                    "type": "recommended"
                },
                {
                    "name": "MT-MMPbeta",
                    "type": "synonym"
                },
                {
                    "name": "mmp14b",
                    "type": "synonym"
                }
            ],
            "record_id": "B0R0I1-1",
            "evidence": [
                {
                    "id": "0080696",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080696"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53690-1",
            "uniprot_ac": "P53690",
            "uniprot_id": "MMP14_MOUSE",
            "refseq_ac": "NP_032634",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrix metalloproteinase-14",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.80",
                    "type": "synonym"
                },
                {
                    "name": "MMP-14",
                    "type": "synonym"
                },
                {
                    "name": "MMP-X1",
                    "type": "synonym"
                },
                {
                    "name": "MT-MMP 1",
                    "type": "synonym"
                },
                {
                    "name": "MT-MMP",
                    "type": "synonym"
                },
                {
                    "name": "MT1-MMP",
                    "type": "synonym"
                },
                {
                    "name": "MT1MMP",
                    "type": "synonym"
                },
                {
                    "name": "MTMMP1",
                    "type": "synonym"
                },
                {
                    "name": "Membrane type 1-MMP",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-type matrix metalloproteinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-type-1 matrix metalloproteinase",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase 14 (membrane-inserted)",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-14 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "membrane-type-1 matrix metalloproteinase",
                    "type": "synonym"
                },
                {
                    "name": "type 1 matrix metalloprotease 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmp14",
                    "type": "recommended"
                },
                {
                    "name": "MMP-X1",
                    "type": "synonym"
                },
                {
                    "name": "MT-MMP-1",
                    "type": "synonym"
                },
                {
                    "name": "MT1-MMP",
                    "type": "synonym"
                },
                {
                    "name": "Mmp14",
                    "type": "synonym"
                },
                {
                    "name": "Mtmmp",
                    "type": "synonym"
                },
                {
                    "name": "sabe",
                    "type": "synonym"
                }
            ],
            "record_id": "P53690-1",
            "evidence": [
                {
                    "id": "0080696",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080696"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50281-1",
            "uniprot_ac": "P50281",
            "uniprot_id": "MMP14_HUMAN",
            "refseq_ac": "NP_004986",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrix metalloproteinase-14",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.80",
                    "type": "synonym"
                },
                {
                    "name": "MMP-14",
                    "type": "synonym"
                },
                {
                    "name": "MMP-X1",
                    "type": "synonym"
                },
                {
                    "name": "MT-MMP 1",
                    "type": "synonym"
                },
                {
                    "name": "MT1-MMP",
                    "type": "synonym"
                },
                {
                    "name": "MT1MMP",
                    "type": "synonym"
                },
                {
                    "name": "MTMMP1",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-type matrix metalloproteinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-type-1 matrix metalloproteinase",
                    "type": "synonym"
                },
                {
                    "name": "matrix metallopeptidase 14 (membrane-inserted)",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-14 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-14",
                    "type": "synonym"
                },
                {
                    "name": "membrane type 1 metalloprotease",
                    "type": "synonym"
                },
                {
                    "name": "membrane-type-1 matrix metalloproteinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MMP14",
                    "type": "recommended"
                },
                {
                    "name": "MMP-14",
                    "type": "synonym"
                },
                {
                    "name": "MMP-X1",
                    "type": "synonym"
                },
                {
                    "name": "MMP14",
                    "type": "synonym"
                },
                {
                    "name": "MT-MMP 1",
                    "type": "synonym"
                },
                {
                    "name": "MT-MMP",
                    "type": "synonym"
                },
                {
                    "name": "MT1-MMP",
                    "type": "synonym"
                },
                {
                    "name": "MT1MMP",
                    "type": "synonym"
                },
                {
                    "name": "MTMMP1",
                    "type": "synonym"
                },
                {
                    "name": "WNCHRS",
                    "type": "synonym"
                }
            ],
            "record_id": "P50281-1",
            "evidence": [
                {
                    "id": "277950",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/277950"
                },
                {
                    "id": "0080696",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080696"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q10739-1",
            "uniprot_ac": "Q10739",
            "uniprot_id": "MMP14_RAT",
            "refseq_ac": "NP_112318",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrix metalloproteinase-14",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.80",
                    "type": "synonym"
                },
                {
                    "name": "MMP-14",
                    "type": "synonym"
                },
                {
                    "name": "MT-MMP 1",
                    "type": "synonym"
                },
                {
                    "name": "MT-MMP",
                    "type": "synonym"
                },
                {
                    "name": "MT1-MMP",
                    "type": "synonym"
                },
                {
                    "name": "MT1MMP",
                    "type": "synonym"
                },
                {
                    "name": "MTMMP1",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-type matrix metalloproteinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-type-1 matrix metalloproteinase",
                    "type": "synonym"
                },
                {
                    "name": "matrix metallopeptidase 14 (membrane-inserted)",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase 14 membrane-inserted",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-14 precursor",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-14",
                    "type": "synonym"
                },
                {
                    "name": "membrane type 1-matrix metalloproteinase",
                    "type": "synonym"
                },
                {
                    "name": "membrane-type matrix metalloproteinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmp14",
                    "type": "recommended"
                },
                {
                    "name": "Mmp14",
                    "type": "synonym"
                },
                {
                    "name": "Mt1-mmp",
                    "type": "synonym"
                },
                {
                    "name": "Mtmmp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q10739-1",
            "evidence": [
                {
                    "id": "0080696",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080696"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8MPP3-1",
            "uniprot_ac": "Q8MPP3",
            "uniprot_id": "D2MP_DROME",
            "refseq_ac": "NP_001260830",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrix metalloproteinase-2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "CG1794-PC",
                    "type": "synonym"
                },
                {
                    "name": "Dm2-MMP",
                    "type": "synonym"
                },
                {
                    "name": "Mmp2-PC",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloprotease 2",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase 2, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase 2",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-2",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloprotinase 2",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of NA9 2-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmp2",
                    "type": "recommended"
                },
                {
                    "name": "2-MMP",
                    "type": "synonym"
                },
                {
                    "name": "CG1794",
                    "type": "synonym"
                },
                {
                    "name": "Dm2-MMP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1794",
                    "type": "synonym"
                },
                {
                    "name": "MMP2",
                    "type": "synonym"
                },
                {
                    "name": "Mmp2",
                    "type": "synonym"
                },
                {
                    "name": "SN2-2",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.84",
                    "type": "synonym"
                },
                {
                    "name": "dMMP2",
                    "type": "synonym"
                },
                {
                    "name": "dm-2MMP",
                    "type": "synonym"
                },
                {
                    "name": "dmmp2",
                    "type": "synonym"
                },
                {
                    "name": "l(2)02353",
                    "type": "synonym"
                },
                {
                    "name": "mmp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8MPP3-1",
            "evidence": [
                {
                    "id": "0080696",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080696"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080696"
}