{
    "disease_id": "DOID:0080030",
    "recommended_name": {
        "id": "DOID:0080030",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080030",
        "name": "spondyloepimetaphyseal dysplasia, Missouri type",
        "description": "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities."
    },
    "synonyms": [
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "spondyloepimetaphyseal dysplasia, Missouri type",
            "description": "A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood."
        },
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "SEMD type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "SEMD, Missouri type",
            "description": ""
        },
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "spondyloepimetaphyseal dysplasia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "spondyloepimetaphyseal dysplasia, Missouri type",
            "description": ""
        },
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "Missouri type of spondyloepimetaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "SEMD Missouri type",
            "description": ""
        },
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "spondyloepimetaphyseal dysplasia Missouri type",
            "description": ""
        },
        {
            "id": "MIM:602111",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602111",
            "name": "Spondyloepimetaphyseal dysplasia, Missouri type",
            "description": "Spondyloepimetaphyseal dysplasia, Missouri type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080030"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080030",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080030",
            "categories": []
        },
        {
            "id": "MONDO:0011198",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "categories": []
        },
        {
            "id": "MIM:602111",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602111",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1Q2B6-1",
            "uniprot_ac": "A0A8M1Q2B6",
            "uniprot_id": "A0A8M1Q2B6_DANRE",
            "refseq_ac": "XP_001345507",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagenase 3",
                    "type": "recommended"
                },
                {
                    "name": "Matrix metalloproteinase-13",
                    "type": "synonym"
                },
                {
                    "name": "collagenase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mmp13b",
                    "type": "recommended"
                },
                {
                    "name": "mmp13b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1Q2B6-1",
            "evidence": [
                {
                    "id": "0080030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33435-1",
            "uniprot_ac": "P33435",
            "uniprot_id": "MMP13_MOUSE",
            "refseq_ac": "NP_032633",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagenase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "MMP-13",
                    "type": "synonym"
                },
                {
                    "name": "Matrix metalloproteinase-13",
                    "type": "synonym"
                },
                {
                    "name": "collagenase 3 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "collagenase 3",
                    "type": "synonym"
                },
                {
                    "name": "collagenase-1",
                    "type": "synonym"
                },
                {
                    "name": "interstitial collagenase",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmp13",
                    "type": "recommended"
                },
                {
                    "name": "Clg",
                    "type": "synonym"
                },
                {
                    "name": "MMP-13",
                    "type": "synonym"
                },
                {
                    "name": "Mmp13",
                    "type": "synonym"
                },
                {
                    "name": "Mmp1",
                    "type": "synonym"
                }
            ],
            "record_id": "P33435-1",
            "evidence": [
                {
                    "id": "0080030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P45452-1",
            "uniprot_ac": "P45452",
            "uniprot_id": "MMP13_HUMAN",
            "refseq_ac": "NP_002418",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagenase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "MMP-13",
                    "type": "synonym"
                },
                {
                    "name": "Matrix metalloproteinase-13",
                    "type": "synonym"
                },
                {
                    "name": "collagenase 3 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase 13 (collagenase 3)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MMP13",
                    "type": "recommended"
                },
                {
                    "name": "CLG3",
                    "type": "synonym"
                },
                {
                    "name": "MANDP1",
                    "type": "synonym"
                },
                {
                    "name": "MDST",
                    "type": "synonym"
                },
                {
                    "name": "MMP-13",
                    "type": "synonym"
                },
                {
                    "name": "MMP13",
                    "type": "synonym"
                }
            ],
            "record_id": "P45452-1",
            "evidence": [
                {
                    "id": "602111",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602111"
                },
                {
                    "id": "0080030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080030"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23097-1",
            "uniprot_ac": "P23097",
            "uniprot_id": "MMP13_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagenase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "MMP-13",
                    "type": "synonym"
                },
                {
                    "name": "Matrix metalloproteinase-13",
                    "type": "synonym"
                },
                {
                    "name": "UMRCASE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmp13",
                    "type": "recommended"
                }
            ],
            "record_id": "P23097-1",
            "evidence": [
                {
                    "id": "0080030",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080030"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080030"
}